Article
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Human genetics - 1 Oct 2011
Reis Linda M, Tyler Rebecca C, Schilter Kala F, Abdul-Rahman Omar, Innis Jeffrey W, Kozel Beth A, Schneider Adele S, Bardakjian Tanya M, Lose Edward J, Martin Donna M, Broeckel Ulrich, Semina Elena V
Abstract excerpt
BMP4 loss-of-function mutations and deletions have been shown to be associated with ocular, digital, and brain anomalies, but due to the paucity of these reports, the full phenotypic spectrum of human BMP4 mutations is not clear. We screened 133 patients with a variety of ocular disorders for BMP4 coding region mutations or genomic deletions. BMP4 deletions were detected in two patients: a patient affected with...
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