Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Meckel–Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. Despite the relatively common occurrence of this syndrome among Arabs, little is known about its genetic architecture in this population. Th...

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Main Authors: Shaheen, Ranad, Faqeih, Eissa, Alshammari, Muneera J, Swaid, Abdulrahman, Al-Gazali, Lihadh, Mardawi, Elham, Ansari, Shinu, Sogaty, Sameera, Seidahmed, Mohammed Z, AlMotairi, Muhammed I, Farra, Chantal, Kurdi, Wesam, Al-Rasheed, Shatha, Alkuraya, Fowzan S
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2013
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722952/
https://ncbi.nlm.nih.gov/pubmed/23169490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.254
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