Article
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
American journal of human genetics - 10 Jan 2013
Below Jennifer E, Earl Dawn L, Shively Kathryn M, McMillin Margaret J, Smith Joshua D, Turner Emily H, Stephan Mark J, Al-Gazali Lihadh I, Hertecant Jozef L, Chitayat David, Unger Sheila, Cohn Daniel H, Krakow Deborah, Swanson James M, Faustman Elaine M, Shendure Jay, Nickerson Deborah A, Bamshad Michael J
Abstract excerpt
Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. Evaluation...
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