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Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  1. Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachy...

    Authors: Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin and Qian Pan

    Citation: BMC Medical Genetics 2017 18:2

    Content type: Research article

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  2. CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectode...

    Authors: Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton and Carmen Ayuso

    Citation: BMC Medical Genetics 2017 18:1

    Content type: Case report

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  3. Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the ur...

    Authors: Robert M. Porsch, Elisa Merello, Patrizia De Marco, Guo Cheng, Laura Rodriguez, Manting So, Pak C. Sham, Paul K. Tam, Valeria Capra, Stacey S. Cherny, Maria-Mercè Garcia-Barcelo and Desmond D. Campbell

    Citation: BMC Medical Genetics 2016 17:98

    Content type: Research article

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  4. Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intel...

    Authors: María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro and Elena Domínguez-Garrido

    Citation: BMC Medical Genetics 2016 17:97

    Content type: Case report

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  5. Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. W...

    Authors: Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    Citation: BMC Medical Genetics 2016 17:96

    Content type: Case report

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  6. Pseudomyxoma peritonei (PMP) is a rare disease with an estimated incidence of 1–2 cases per million individuals per year. PMP is characterized by the accumulation of abundant mucinous or gelatinous fluid deriv...

    Authors: Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa and Hideaki Yano

    Citation: BMC Medical Genetics 2016 17:94

    Content type: Case report

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  7. Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); howe...

    Authors: Patrick R. Blackburn, Michael T. Zimmermann, Jennifer M. Gass, Kimberly G. Harris, Margot A. Cousin, Nicole J. Boczek, Owen A. Ross, Eric W. Klee, Paul W. Brazis, Jay A. Van Gerpen and Paldeep S. Atwal

    Citation: BMC Medical Genetics 2016 17:93

    Content type: Case report

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  8. Preeclampsia (PE) and HIV/AIDS present a major health challenge globally. South Africa has the highest disease burden of both HIV/AIDS and PE in the world. Despite extensive research, the pathophysiology of th...

    Authors: Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay and Anil Amichund Chuturgoon

    Citation: BMC Medical Genetics 2016 17:92

    Content type: Research article

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  9. Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contr...

    Authors: Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi and Xinmin Li

    Citation: BMC Medical Genetics 2016 17:91

    Content type: Case report

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  10. Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but...

    Authors: Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone…

    Citation: BMC Medical Genetics 2016 17:89

    Content type: Research article

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  11. The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis.

    Authors: Birgitta Bergendal, Johanna Norderyd, Xiaolei Zhou, Joakim Klar and Niklas Dahl

    Citation: BMC Medical Genetics 2016 17:88

    Content type: Research article

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  12. A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly be...

    Authors: Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret I. Gibson, Sarah Soden, Neil Miller, Isabelle Thiffault, Carol Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara and Emily Farrow

    Citation: BMC Medical Genetics 2016 17:86

    Content type: Case report

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  13. Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanisti...

    Authors: Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi and Kuniaki Seyama

    Citation: BMC Medical Genetics 2016 17:85

    Content type: Case report

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  14. Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, w...

    Authors: Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M. Marincola, Khalid A. Fakhro and Chiara Cugno

    Citation: BMC Medical Genetics 2016 17:84

    Content type: Case report

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  15. The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases.

    Authors: Alan Hanley, Katie A. Walsh, Caroline Joyce, Michael A. McLellan, Sebastian Clauss, Amaya Hagen, Marisa A. Shea, Nathan R. Tucker, Honghuang Lin, Gerard J. Fahy and Patrick T. Ellinor

    Citation: BMC Medical Genetics 2016 17:83

    Content type: Research article

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  16. CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor...

    Authors: Sharon Aharoni, Katy E. S. Barwick, Rachel Straussberg, Gaurav V. Harlalka, Yoram Nevo, Barry A. Chioza, Meriel M. McEntagart, Aviva Mimouni-Bloch, Michael Weedon and Andrew H. Crosby

    Citation: BMC Medical Genetics 2016 17:82

    Content type: Research article

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  17. The objective of reported study was to evaluate the clinical utility of prenatal microarray testing for submicroscopic genomic imbalances in routine prenatal settings and to stratify the findings according to ...

    Authors: Luca Lovrecic, Ziga Iztok Remec, Marija Volk, Gorazd Rudolf, Karin Writzl and Borut Peterlin

    Citation: BMC Medical Genetics 2016 17:81

    Content type: Research article

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  18. Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutat...

    Authors: Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang and Lingqian Wu

    Citation: BMC Medical Genetics 2016 17:77

    Content type: Case report

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  19. Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) ha...

    Authors: Yosep Chong, Minyoung Kim, Eun Sil Koh, Seok Joon Shin, Ho-Shik Kim and Sungjin Chung

    Citation: BMC Medical Genetics 2016 17:76

    Content type: Case report

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  20. Inherited disorders of haemoglobin are the world’s most common genetic diseases, resulting in significant morbidity and mortality. The large number of mutations associated with the haemoglobin beta gene (HBB) mak...

    Authors: Andrew Turner, Jurgen Sasse and Aniko Varadi

    Citation: BMC Medical Genetics 2016 17:75

    Content type: Technical advance

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  21. Patients on renal replacement therapy are often unaware of their underlying condition and hence suffer from so-called end-stage renal disease (ESRD) of unknown origin. However, an exact diagnosis is not only i...

    Authors: Johannes Münch, Maik Grohmann, Tom H. Lindner, Carsten Bergmann and Jan Halbritter

    Citation: BMC Medical Genetics 2016 17:73

    Content type: Case report

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  22. The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSH...

    Authors: Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Virginie Mariot, Charlene Chaix, Catherine Vovan, Killian Mazaleyrat, Armand Tasmadjian, Rafaelle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier…

    Citation: BMC Medical Genetics 2016 17:66

    Content type: Case report

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  23. Congenital cataracts affect 3–6 per 10,000 live births and represent one of the leading causes of blindness in children. Congenital cataracts have a strong genetic component with high heterogeneity and variabi...

    Authors: Hannah Happ, Eric Weh, Deborah Costakos, Linda M. Reis and Elena V. Semina

    Citation: BMC Medical Genetics 2016 17:64

    Content type: Case report

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  24. Mutations in MYLK cause non-syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characterize the aortic disease and th...

    Authors: Matias Hannuksela, Eva-Lena Stattin, Joakim Klar, Adam Ameur, Bengt Johansson, Karen Sörensen and Bo Carlberg

    Citation: BMC Medical Genetics 2016 17:61

    Content type: Research article

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  25. Nonsyndromic orofacial cleft is a common birth defect with a complex etiology, including multiple genetic and environmental risk factors. Recent whole genome analyses suggested associations between nonsyndromi...

    Authors: Hsiu-Huei Peng, Nai-Chung Chang, Kuo-Ting Chen, Jang-Jih Lu, Pi-Yueh Chang, Shih-Cheng Chang, Yah-Huei Wu-Chou, Yi-Ting Chou, Wanni Phang and Po-Jen Cheng

    Citation: BMC Medical Genetics 2016 17:59

    Content type: Research article

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  26. Mucopolysaccharidosis I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a lack of the lysosomal enzyme α-L-iduronidase (IDUA). To date, more than 200 IDUA mutations have been reported. Howe...

    Authors: Min Jung Kwak, Rimm Huh, Jinsup Kim, Hyung-Doo Park, Sung Yoon Cho and Dong-Kyu Jin

    Citation: BMC Medical Genetics 2016 17:58

    Content type: Research article

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  27. Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I...

    Authors: Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, Menachem Sadeh, Ron Dabby, Rachel Straussberg, Ilan Shelef, Daniel Dayan, Leslie Anne Leinwand and Ohad S. Birk

    Citation: BMC Medical Genetics 2016 17:57

    Content type: Research article

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  28. WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein show...

    Authors: Loai Elsaadany, Mahmoud El-Said, Rehab Ali, Hussein Kamel and Tawfeg Ben-Omran

    Citation: BMC Medical Genetics 2016 17:53

    Content type: Case report

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  29. Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause ...

    Authors: Libe Gradstein, Jenny Zolotushko, Yuri V. Sergeev, Itay Lavy, Ginat Narkis, Yonatan Perez, Sarah Guigui, Dror Sharon, Eyal Banin, Eyal Walter, Tova Lifshitz and Ohad S. Birk

    Citation: BMC Medical Genetics 2016 17:52

    Content type: Research article

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  30. Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the cli...

    Authors: Hui Yao, Chuanchun Yang, Xiaoli Huang, Luhong Yang, Wei Zhao, Dan Yin, Yuan Qin, Feng Mu, Lin Liu, Ping Tian, Zhisheng Liu and Yun Yang

    Citation: BMC Medical Genetics 2016 17:49

    Content type: Case report

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  31. von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, re...

    Authors: Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park and Moon-Woo Seong

    Citation: BMC Medical Genetics 2016 17:48

    Content type: Research article

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  32. Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulth...

    Authors: Nadia Carstens, Susan Williams, Saadiah Goolam, Trevor Carmichael, Ming Sin Cheung, Stine Büchmann-Møller, Marc Sultan, Frank Staedtler, Chao Zou, Peter Swart, Dennis S. Rice, Arnaud Lacoste, Kim Paes and Michèle Ramsay

    Citation: BMC Medical Genetics 2016 17:47

    Content type: Research article

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  33. The serum glutathione S-transferase alpha (α-GST) concentration has been used as a marker of hepatic condition. After sevoflurane anaesthesia a mild impairment of hepatocellular integrity was observed. Genetic...

    Authors: Adam Mikstacki, Marzena Skrzypczak-Zielinska, Oliwia Zakerska-Banaszak, Barbara Tamowicz, Maria Skibinska, Marta Molinska-Glura, Marlena Szalata and Ryszard Slomski

    Citation: BMC Medical Genetics 2016 17:40

    Content type: Research article

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  34. Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is...

    Authors: Daniel F. Garcia, José S. Camelo Jr, Greice A. Molfetta, Marlene Turcato, Carolina F. M. Souza, Gilda Porta, Carlos E. Steiner and Wilson A. Silva Jr

    Citation: BMC Medical Genetics 2016 17:39

    Content type: Research article

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  35. Osteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. The majority of OI cas...

    Authors: Carla M. Kaneto, Patrícia S. P. Lima, Dalila Lucíola Zanette, Thiago Yukio Kikuchi Oliveira, Francisco de Assis Pereira, Julio Cesar Cetrulo Lorenzi, Jane Lima dos Santos, Karen L. Prata, João M. Pina Neto, Francisco J. A. de Paula and Wilson A. Silva Jr.

    Citation: BMC Medical Genetics 2016 17:38

    Content type: Research article

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  36. Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutati...

    Authors: Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante and Ana Belén Elgoyhen

    Citation: BMC Medical Genetics 2016 17:37

    Content type: Case report

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  37. Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non–insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)- gene...

    Authors: Birgit Knebel, Susanne Mack, Jutta Haas, Mona Kathrin Herman-Friede, Simone Lange, Oliver Schubert, Jorg Kotzka and Dirk Muller-Wieland

    Citation: BMC Medical Genetics 2016 17:36

    Content type: Case report

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  38. The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recur...

    Authors: Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, Wouter F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen…

    Citation: BMC Medical Genetics 2016 17:35

    Content type: Research article

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  39. Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ...

    Authors: Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude…

    Citation: BMC Medical Genetics 2016 17:34

    Content type: Research article

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  40. Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korea...

    Authors: Rihwa Choi, Hyung-Doo Park, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song and Yon Ho Choe

    Citation: BMC Medical Genetics 2016 17:33

    Content type: Research article

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  41. Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent n...

    Authors: Tamara McMillan, Rose Girgis and Elizabeth A. C. Sellers

    Citation: BMC Medical Genetics 2016 17:32

    Content type: Case report

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  42. Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8–36 % of cases, and display an autosomal dominant inheritance w...

    Authors: Emmanuelle Souzeau, Kathryn P. Burdon, Bronwyn Ridge, Andrew Dubowsky, Jonathan B. Ruddle and Jamie E. Craig

    Citation: BMC Medical Genetics 2016 17:30

    Content type: Case report

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  43. Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To furthe...

    Authors: Katta Mohan Girisha, Abdul Mueed Bidchol, Luitgard Graul-Neumann, Ashish Gupta, Ute Hehr, Davor Lessel, Sean Nader, Hitesh Shah, Julia Wickert and Kerstin Kutsche

    Citation: BMC Medical Genetics 2016 17:27

    Content type: Research article

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  44. Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genet...

    Authors: Guja Astrea, Antonio Petrucci, Denise Cassandrini, Marco Savarese, Rosanna Trovato, Ludovico Lispi, Anna Rubegni, Manlio Giacanelli, Roberto Massa, Vincenzo Nigro and Filippo M. Santorelli

    Citation: BMC Medical Genetics 2016 17:25

    Content type: Case report

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  45. The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-g...

    Authors: Yanling Dong, Yuting Yi, Hong Yao, Ziying Yang, Huamei Hu, Jiucheng Liu, Changxin Gao, Ming Zhang, Liying Zhou, Asan, Xin Yi and Zhiqing Liang

    Citation: BMC Medical Genetics 2016 17:23

    Content type: Research article

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  46. Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain ...

    Authors: Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito and Donatella Milani

    Citation: BMC Medical Genetics 2016 17:22

    Content type: Case report

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  47. Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with imprinting disturbances of chromosomes 11p15.5 and 7 is gen...

    Authors: Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann and Thomas Eggermann

    Citation: BMC Medical Genetics 2016 17:20

    Content type: Research article

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