Article
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
American journal of human genetics - 8 Oct 2010
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
Abstract excerpt
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, camptodactyly, peculiar skeletal abnormalities, and normal development and intelligence. We present molecular data on four...
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