Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Abstract

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… (More)
DOI: 10.1016/j.ajhg.2010.09.005

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