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
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2013
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Article
גישה מקוונת: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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