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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2013
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Article
Online-ссылка: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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