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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. Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution ...

    Authors: Maria Rosaria D’Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Francesca Gullotta, Norma Licata, Daniela Minella, Barbara Testa, Anna Maria Nardone, Giampiero Palmieri, Emma Calabrese, Livia Biancone, Caterina Tanzarella, Marina Frontali, Federica Sangiuolo…
    Citation: BMC Medical Genetics 2015 16:20
    Content type: Case report Published on:

  2. Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases.

    Authors: Cecilia Mancini, Laura Orsi, Yiran Guo, Jiankang Li, Yulan Chen, Fengxiang Wang, Lifeng Tian, Xuanzhu Liu, Jianguo Zhang, Hui Jiang, Bruce Shike Nmezi, Takashi Tatsuta, Elisa Giorgio, Eleonora Di Gregorio, Simona Cavalieri, Elisa Pozzi…
    Citation: BMC Medical Genetics 2015 16:16
    Content type: Research article Published on:

  3. Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including re...

    Authors: Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan and Moeenaldeen Al-Sayed
    Citation: BMC Medical Genetics 2015 16:14
    Content type: Case report Published on:

  4. Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), wh...

    Authors: Ayman W El-Hattab, Christian P Schaaf, Ping Fang, Elizabeth Roeder, Virginia E Kimonis, Joseph A Church, Ankita Patel and Sau Wai Cheung
    Citation: BMC Medical Genetics 2015 16:12
    Content type: Research article Published on:

  5. Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulth...

    Authors: Ana Carolina Acevedo, James A Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Claudio Castro, Paulo Marcio Yamaguti, Lilian M Paula, David A Parry, Clare V Logan, Claire E L Smith, Colin A Johnson, Chris F Inglehearn and Alan J Mighell
    Citation: BMC Medical Genetics 2015 16:8
    Content type: Research article Published on:

  6. Congenital heart diseases (CHDs) usually refer to abnormalities in the structure and/or function of the heart that arise before birth. GATA4 plays an important role in embryonic heart development, hence the aim o...

    Authors: Saidulu Mattapally, Sheikh Nizamuddin, Kona Samba Murthy, Kumarasamy Thangaraj and Sanjay K Banerjee
    Citation: BMC Medical Genetics 2015 16:7
    Content type: Research article Published on:

  7. Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases wit...

    Authors: Said Farschtschi, Victor-Felix Mautner, Silke Hollants, Christian Hagel, Marijke Spaepen, Christoph Schulte, Eric Legius and Hilde Brems
    Citation: BMC Medical Genetics 2015 16:6
    Content type: Case report Published on:

  8. Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteo...

    Authors: Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar and Mohammed Faruq
    Citation: BMC Medical Genetics 2015 16:5
    Content type: Case report Published on:

  9. Mutations in the two MT-RNR genes in mitochondrial DNA can cause hearing impairment that presents with variable severity and age of onset. In order to study the prevalence of mutations in MT-RNR1 and MT-RNR2 gene...

    Authors: Sanna Häkli, Mirja Luotonen, Martti Sorri and Kari Majamaa
    Citation: BMC Medical Genetics 2015 16:3
    Content type: Research article Published on:

  10. Breast cancer is the most frequent oncological disease among women. Estrogens are known to play an important role in breast cancer development. Recognition of the relationship between polymorphisms within estr...

    Authors: Aistė Savukaitytė, Rasa Ugenskienė, Roberta Jankauskaitė, Darius Čereškevičius, Eglė Šepetauskienė and Elona Juozaitytė
    Citation: BMC Medical Genetics 2015 16:2
    Content type: Research article Published on:

  11. The BRAF V600E mutation is reportedly associated with inferior survival among colon cancer patients. Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600–601E, which has analogous...

    Authors: Yoshiko Mori, Takeshi Nagasaka, Hideyuki Mishima, Yuzo Umeda, Ryo Inada, Hiroyuki Kishimoto, Ajay Goel and Toshiyoshi Fujiwara
    Citation: BMC Medical Genetics 2015 16:1
    Content type: Case report Published on:

  12. Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complet...

    Authors: Roberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, Ana Luiza Pilla, Marco Antonio Paula de Ramos, Anelisa Gollo Dantas, Sylvia Satomi Takeno, Leslie Domenici Kulikowski and Maria Isabel Melaragno
    Citation: BMC Medical Genetics 2014 15:142
    Content type: Research article Published on:

  13. Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. ...

    Authors: Xiao Liu, Zhaoxia Wang, Weina Jin, He Lv, Wei Zhang, Chengli Que, Yu Huang and Yun Yuan
    Citation: BMC Medical Genetics 2014 15:141
    Content type: Research article Published on:

  14. DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodef...

    Authors: Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José-Mario Capo-Chichi, Brigitte Delemer, Aurelio Balsalobre, Christina Nassif, Dimitris T Papadimitriou, Anne Pagnier, Caroline Hasselmann, Lysanne Patry, Jeremy Schwartzentruber, Pierre-François Souchon, Shinobu Takayasu, Alain Enjalbert…
    Citation: BMC Medical Genetics 2014 15:139
    Content type: Research article Published on:

  15. Inherited thrombocytopenias (IT) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. The frequency of IT is probably underestimated because of diagnostic difficulti...

    Authors: Hanan Hamamy, Periklis Makrythanasis, Nasir Al-Allawi, Abdulrahman A Muhsin and Stylianos E Antonarakis
    Citation: BMC Medical Genetics 2014 15:135
    Content type: Case report Published on:

  16. The MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical re...

    Authors: Heather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, Isaac S Kohane, Joel Krier, William J Lane, Denise Lautenbach, Matthew S Lebo, Kalotina Machini, Calum A MacRae, Danielle R Azzariti, Michael F Murray, Christine E Seidman, Jason L Vassy, Robert C Green and Heidi L Rehm
    Citation: BMC Medical Genetics 2014 15:134
    Content type: Research article Published on:

  17. Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder associated with intellectual disability in one-third of cases. Recent findings support Mendelian inheritance in subgroups of patients with the...

    Authors: Muhammad Jameel, Joakim Klar, Muhammad Tariq, Abubakar Moawia, Naveed Altaf Malik, Syeda Seema Waseem, Uzma Abdullah, Tahir Naeem Khan, Raili Raininko, Shahid Mahmood Baig and Niklas Dahl
    Citation: BMC Medical Genetics 2014 15:133
    Content type: Research article Published on:

  18. Most PCR-based diagnostics are still considered time- and labor-intensive due to disparate purification, amplification, and detection steps. Advancements in PCR enzymes and buffer chemistry have increased inhi...

    Authors: Christopher M Connelly, Laura R Porter and Joel R TerMaat
    Citation: BMC Medical Genetics 2014 15:130
    Content type: Technical advance Published on:

  19. Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenoty...

    Authors: Caroline Demily, Massimiliano Rossi, Gabrielle Chesnoy-Servanin, Brice Martin, Alice Poisson, Damien Sanlaville and Patrick Edery
    Citation: BMC Medical Genetics 2014 15:132
    Content type: Case report Published on:

  20. Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder. It is caused by mutations in the PKD1 and PKD2 genes, and manifests as progressive cyst growth and renal enlargem...

    Authors: Rihwa Choi, Hayne Cho Park, Kyunghoon Lee, Myoung-Gun Lee, Jong-Won Kim, Chang-Seok Ki, Young-Hwan Hwang and Curie Ahn
    Citation: BMC Medical Genetics 2014 15:129
    Content type: Research article Published on:

  21. Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutiv...

    Authors: Avinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, Wenjian Cao, Frank J Probst, Weihong Jin, Ping Fang, Krzysztof Gogolewski, Anna Gambin, Jaya K George-Abraham, Sailaja Golla, Francoise Boidein, Benedicte Duban-Bedu, Bruno Delobel, Joris Andrieux, Kerstin Becker…
    Citation: BMC Medical Genetics 2014 15:128
    Content type: Research article Published on:

  22. Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusi...

    Authors: Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof and Denise Horn
    Citation: BMC Medical Genetics 2014 15:127
    Content type: Research article Published on:

  23. Increasing number of case reports of mosaic mutations and deletions have better armed clinicians and geneticists with more accurate and focused prenatal diagnoses. Since mosaicism means a significant increase ...

    Authors: Shiyu Luo, Wen Huang, Qiuping Xia, Yan Xia, Qian Du, Lingqian Wu and Ranhui Duan
    Citation: BMC Medical Genetics 2014 15:125
    Content type: Case report Published on:

  24. No abstract

    Authors: Linda Siggberg, Sirpa Ala-Mello, Tarja Linnankivi, Kristiina Avela, Ilari Scheinin, Kati Kristiansson, Päivi Lahermo, Marja Hietala, Liisa Metsähonkala, Esa Kuusinen, Maarit Laaksonen, Janna Saarela and Sakari Knuutila
    Citation: BMC Medical Genetics 2014 15:124
    Content type: Erratum Published on:

    The original article was published in BMC Medical Genetics 2012 13:84

  25. Arterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for an...

    Authors: Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Elena Reffo, Marina Venturini, Stefano Quinzani, Matteo Della Monica, Gioacchino Scarano, Giuseppe Santoro, Maria Giovanna Russo, Piergiacomo Calzavara-Pinton, Ornella Milanesi and Marina Colombi
    Citation: BMC Medical Genetics 2014 15:122
    Content type: Case report Published on:

  26. We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms.

    Authors: Alicia Delicado, Luis Fernández, María Luisa de Torres, Julián Nevado, Fe Amalia García-Santiago, Roberto Rodríguez, Elena Mansilla, María Palomares, Fernando Santos-Simarro, Elena Vallespín, María Ángeles Mori and Pablo Lapunzina
    Citation: BMC Medical Genetics 2014 15:116
    Content type: Research article Published on:

  27. The fragile X syndrome (FXS) results from mutation of the FMR1 gene that prevents expression of its gene product, FMRP. We previously characterized 215 dried blood spots (DBS) representing different FMR1 genot...

    Authors: Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Michele Caggana, Veronica Wiley, Michael Field, Tiffany Wotton, Richard Kascsak, Sarah L Nolin, Anne Glicksman, Nicole Hosmer and W Ted Brown
    Citation: BMC Medical Genetics 2014 15:119
    Content type: Research article Published on:

  28. Spinocerebellar ataxia type 1 (SCA1) is a late onset autosomal dominant cerebellar ataxia, caused by CAG triplet repeat expansion in the ATXN1 gene. The frequency of SCA1 occurrence is more in Southern India than...

    Authors: Dhanya Kumaran, Krishnan Balagopal, Reginald George Alex Tharmaraj, Sanjith Aaron, Kuryan George, Jayaprakash Muliyil, Ajith Sivadasan, Sumita Danda, Mathew Alexander and Gaiti Hasan
    Citation: BMC Medical Genetics 2014 15:114
    Content type: Research article Published on:

  29. Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a ...

    Authors: Vicki J Hwang, Dianna Maar, John Regan, Kathleen Angkustsiri, Tony J Simon and Flora Tassone
    Citation: BMC Medical Genetics 2014 15:106
    Content type: Research article Published on:

  31. The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tum...

    Authors: Jean-Pierre Bayley, Rogier A Oldenburg, Jennifer Nuk, Attje S Hoekstra, Conny A van der Meer, Esther Korpershoek, Barbara McGillivray, Eleonora PM Corssmit, Winand NM Dinjens, Ronald R de Krijger, Peter Devilee, Jeroen C Jansen and Frederik J Hes
    Citation: BMC Medical Genetics 2014 15:111
    Content type: Research article Published on:

  32. Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-...

    Authors: Michael Volodarsky, Yshaia Langer and Ohad S Birk
    Citation: BMC Medical Genetics 2014 15:110
    Content type: Case report Published on:

  34. Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme la...

    Authors: Taciane Borsatto, Fernanda Sperb-Ludwig, Louise LC Pinto, Gisele R De Luca, Francisca L Carvalho, Carolina FM De Souza, Paula FV De Medeiros, Charles M Lourenço, Reinaldo LO Filho, Eurico C Neto, Pricila Bernardi, Sandra Leistner-Segal and Ida VD Schwartz
    Citation: BMC Medical Genetics 2014 15:96
    Content type: Research article Published on:

  35. Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical p...

    Authors: Aimee L Fenwick, Jacqueline AC Goos, Julia Rankin, Helen Lord, Tracy Lester, A Jeannette M Hoogeboom, Ans MW van den Ouweland, Steven A Wall, Irene MJ Mathijssen and Andrew OM Wilkie
    Citation: BMC Medical Genetics 2014 15:95
    Content type: Case report Published on:

  36. The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic connective tissue involvement. LDS type 1 to 4 are caused b...

    Authors: Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton and Marina Colombi
    Citation: BMC Medical Genetics 2014 15:91
    Content type: Case report Published on:

  37. Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose o...

    Authors: Xin-Yi Xia, Na Li, Xiang Cao, Qiu-Yue Wu, Tian-Fu Li, Cui Zhang, Wei-Wei Li, Ying-Xia Cui, Xiao-Jun Li and Chun-Yan Xue
    Citation: BMC Medical Genetics 2014 15:97
    Content type: Research article Published on:

  38. Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) protein due to mutations in the GALT gene....

    Authors: Rihwa Choi, Kyoung Il Jo, Dae-Hyun Ko, Dong Hwan Lee, Junghan Song, Dong-Kyu Jin, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Yong-Wha Lee and Hyung-Doo Park
    Citation: BMC Medical Genetics 2014 15:94
    Content type: Research article Published on:

  39. Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinic...

    Authors: Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli and Adriana Franzese
    Citation: BMC Medical Genetics 2014 15:88
    Content type: Case report Published on:

  40. SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that thes...

    Authors: Valentina Gatta, Chiara Palka, Valentina Chiavaroli, Sara Franchi, Giovanni Cannataro, Massimo Savastano, Antonio Raffaele Cotroneo, Francesco Chiarelli, Angelika Mohn and Liborio Stuppia
    Citation: BMC Medical Genetics 2014 15:87
    Content type: Case report Published on:

  41. DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-syst...

    Authors: Ying Qiao, Eloi Mercier, Jila Dastan, Jane Hurlburt, Barbara McGillivray, Albert E Chudley, Sandra Farrell, Francois P Bernier, ME Suzanne Lewis, Paul Pavlidis and Evica Rajcan-Separovic
    Citation: BMC Medical Genetics 2014 15:82
    Content type: Research article Published on:

  42. Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual...

    Authors: Annette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, Anne Cecile Hellin, Mauricette Jamar, Vinciane Dideberg, Emmanuel K Rusingiza, Vincent Bours and Leon Mutesa
    Citation: BMC Medical Genetics 2014 15:79
    Content type: Research article Published on:

  43. TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart d...

    Authors: Yue-Juan Xu, Sun Chen, Jian Zhang, Shao-Hai Fang, Qian-Qian Guo, Jian Wang, Qi-Hua Fu, Fen Li, Rang Xu and Kun Sun
    Citation: BMC Medical Genetics 2014 15:78
    Content type: Research article Published on:

  44. Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyop...

    Authors: Mingqiu Zhang, Jia Chen, Dayong Si, Yu Zheng, Haixu Jiao, Zhaohui Feng, Zhengmao Hu and Ranhui Duan
    Citation: BMC Medical Genetics 2014 15:77
    Content type: Case report Published on:

  45. Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unl...

    Authors: Ali Rashidi-Nezhad, Saeed Talebi, Homeira Saebnouri, Seyed Mohammad Akrami and Alexandre Reymond
    Citation: BMC Medical Genetics 2014 15:75
    Content type: Case report Published on:

  46. Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 2...

    Authors: Hasan Dogan, Fatih Akdemir, Sener Tasdemir, Omer Atis, Eda Diyarbakir, Rahsan Yildirim, Mucahit Emet and Mevlit Ikbal
    Citation: BMC Medical Genetics 2014 15:74
    Content type: Research article Published on:

  47. Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype...

    Authors: Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M Kalscheuer, Wafaa Shehata-Dieler and Thomas Haaf
    Citation: BMC Medical Genetics 2014 15:72
    Content type: Case report Published on:

  48. Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical informa...

    Authors: Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig and Joakim Klar
    Citation: BMC Medical Genetics 2014 15:71
    Content type: Research article Published on:

  49. Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validate...

    Authors: Penny J Norsworthy, Jana Vandrovcova, Ellen RA Thomas, Archie Campbell, Shona M Kerr, Jennifer Biggs, Laurence Game, Anne K Soutar, Blair H Smith, Anna F Dominiczak, David J Porteous, Andrew D Morris, Generation Scotland and Timothy J Aitman
    Citation: BMC Medical Genetics 2014 15:70
    Content type: Research article Published on:

  50. Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purp...

    Authors: Qi Liu, Zhen Wang, Yuhong Wu, Lihua Cao, Qingzhu Tang, Xuesha Xing, Hongwei Ma, Shifa Zhang and Yang Luo
    Citation: BMC Medical Genetics 2014 15:69
    Content type: Research article Published on:

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ISSN: 1471-2350

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