Article
Mutation analysis of B3GALTL in Peters Plus syndrome.
American journal of medical genetics. Part A - 15 Oct 2008
Reis Linda M, Tyler Rebecca C, Abdul-Rahman Omar, Trapane Pamela, Wallerstein Robert, Broome Diane, Hoffman Jodi, Khan Aneal, Paradiso Christina, Ron Nitin, Bergner Amanda, Semina Elena V
Abstract excerpt
Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined...
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