Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial features, which include blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, and an everted lower lip. Other features are arachnodactyly, camptoda...

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Detaylı Bibliyografya
Asıl Yazarlar: Anastasio, Natascia, Ben-Omran, Tawfeg, Teebi, Ahmad, Ha, Kevin C.H., Lalonde, Emilie, Ali, Rehab, Almureikhi, Mariam, Der Kaloustian, Vazken M., Liu, Junhui, Rosenblatt, David S., Majewski, Jacek, Jerome-Majewska, Loydie A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2010
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948800/
https://ncbi.nlm.nih.gov/pubmed/20887961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.09.005
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