Skip to main content

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.

Page 9 of 14

  1. Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the...

    Authors: Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi and Takeo Kato

    Citation: BMC Medical Genetics 2017 18:37

    Content type: Case report

    Published on:

  2. Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. M...

    Authors: Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu and Yongyi Yuan

    Citation: BMC Medical Genetics 2017 18:36

    Content type: Research article

    Published on:

  3. Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropat...

    Authors: Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu and Jianping Liang

    Citation: BMC Medical Genetics 2017 18:35

    Content type: Research article

    Published on:

  4. Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spec...

    Authors: Sulman Basit, Alia M. Albalawi, Essa Alharby and Khalid I. Khoshhal

    Citation: BMC Medical Genetics 2017 18:34

    Content type: Research article

    Published on:

  5. Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrim...

    Authors: Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki and Alice Abdel Aleem

    Citation: BMC Medical Genetics 2017 18:33

    Content type: Case report

    Published on:

  6. Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to...

    Authors: Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa and Tatsuo Matsunaga

    Citation: BMC Medical Genetics 2017 18:32

    Content type: Research article

    Published on:

  7. Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not al...

    Authors: Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard and Patrice Bouvagnet

    Citation: BMC Medical Genetics 2017 18:31

    Content type: Research article

    Published on:

  8. Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome.

    Authors: Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim and Kyu Young Chae

    Citation: BMC Medical Genetics 2017 18:30

    Content type: Research article

    Published on:

  9. Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (...

    Authors: Elizna M. Schoeman, Francois H. Van Der Westhuizen, Elardus Erasmus, Etresia van Dyk, Charlotte V. Y. Knowles, Shereen Al-Ali, Wan-Fai Ng, Robert W. Taylor, Julia L. Newton and Joanna L. Elson

    Citation: BMC Medical Genetics 2017 18:29

    Content type: Research article

    Published on:

  10. Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair....

    Authors: Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D. van Helden, Eileen G. Hoal, Monika Esser, Michael Urban and Marlo Möller

    Citation: BMC Medical Genetics 2017 18:26

    Content type: Research article

    Published on:

  11. Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenet...

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

    Citation: BMC Medical Genetics 2017 18:25

    Content type: Case report

    Published on:

  12. Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based “precision medicine”. Applications of the genetic discoveries to practice of medicine, however, are hindered by phe...

    Authors: Matthew Neil Bainbridge, Lili Li, Yanli Tan, Benjamin Y. Cheong and Ali J. Marian

    Citation: BMC Medical Genetics 2017 18:24

    Content type: Case report

    Published on:

  13. We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitoch...

    Authors: Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati and André Schaller

    Citation: BMC Medical Genetics 2017 18:22

    Content type: Research article

    Published on:

  14. Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and ...

    Authors: Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez and Luisa M. Botella

    Citation: BMC Medical Genetics 2017 18:20

    Content type: Research article

    Published on:

  15. Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. STK11 has been identified as a causative gene for this disease.

    Authors: Jing-Hui Chen, Jing-Jing Zheng, Qin Guo, Chao Liu, Bin Luo, Shuang-Bo Tang, Jian-Ding Cheng and Er-Wen Huang

    Citation: BMC Medical Genetics 2017 18:19

    Content type: Case report

    Published on:

  16. Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 ...

    Authors: Yiran Guo, Liang-Dar Hwang, Jiankang Li, Jason Eades, Chung Wen Yu, Corrine Mansfield, Alexis Burdick-Will, Xiao Chang, Yulan Chen, Fujiko F. Duke, Jianguo Zhang, Steven Fakharzadeh, Paul Fennessey, Brendan J. Keating, Hui Jiang, Hakon Hakonarson…

    Citation: BMC Medical Genetics 2017 18:11

    Content type: Research article

    Published on:

  17. Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cyt...

    Authors: Shiyuan Zhou, Hongyu Ma, Bo Gao, Guangming Fang, Yi Zeng, Qing Zhang and GaoFu Qi

    Citation: BMC Medical Genetics 2017 18:15

    Content type: Case report

    Published on:

  18. Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family...

    Authors: Wen’an Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong and Buling Wu

    Citation: BMC Medical Genetics 2017 18:13

    Content type: Research article

    Published on:

  19. Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the media...

    Authors: Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D’Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli and Francesco Salvatore

    Citation: BMC Medical Genetics 2017 18:10

    Content type: Research article

    Published on:

  20. Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalen...

    Authors: Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville and Massimiliano Rossi

    Citation: BMC Medical Genetics 2017 18:9

    Content type: Case report

    Published on:

  21. Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ ...

    Authors: Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri and Frenny Sheth

    Citation: BMC Medical Genetics 2017 18:5

    Content type: Case report

    Published on:

  22. Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly re...

    Authors: Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato…

    Citation: BMC Medical Genetics 2017 18:4

    Content type: Research article

    Published on:

  23. Mutations in Wilm’s tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 o...

    Authors: Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan and Anil Vasudevan

    Citation: BMC Medical Genetics 2017 18:3

    Content type: Technical advance

    Published on:

  24. 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

    Published on:

  25. 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

    Published on:

  26. 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

    Published on:

  27. 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

    Published on:

  28. 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

    Published on:

  29. 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

    Published on:

  30. 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

    Published on:

  31. 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

    Published on:

  32. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  39. 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

    Published on:

  40. 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

    Published on:

  41. The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and i...

    Authors: Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic and M. E. Suzanne Lewis

    Citation: BMC Medical Genetics 2016 17:78

    Content type: Case report

    Published on:

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  45. 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

    Published on:

  46. 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

    Published on:

  47. 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

    Published on:

  48. 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

    Published on:

  49. 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

    Published on:

2018 Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.