Article
Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
Clinical genetics - 1 Apr 2014
Davis E E, Savage J H, Willer J R, Jiang Y-H, Angrist M, Androutsopoulos A, Katsanis N
Abstract excerpt
Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns. We conducted whole exome sequencing of a Turkish male with a suspected X-linked skeletal dysplasia of unknown etiology as well as his unaffected mother and maternal uncle. Bioinformatic filtering of variants implicated in skeletal system development revealed a novel...
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