Article
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.
American journal of medical genetics. Part A - 1 May 2014
Migliavacca Michele P, Sobreira Nara L M, Antonialli Graziela P M, Oliveira Mariana M, Melaragno Maria Isabel S A, Casteels Ingele, de Ravel Thomy, Brunoni Decio, Valle David, Perez Ana Beatriz A
Abstract excerpt
Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010]...
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