Article
EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
Chest - 1 Feb 2014
Best D Hunter, Sumner Kelli L, Austin Eric D, Chung Wendy K, Brown Lynette M, Borczuk Alain C, Rosenzweig Erika B, Bayrak-Toydemir Pinar, Mao Rong, Cahill Barbara C, Tazelaar Henry D, Leslie Kevin O, Hemnes Anna R, Robbins Ivan M, Elliott C Gregory
Abstract excerpt
BACKGROUND: Pulmonary capillary hemangiomatosis (PCH) is a rare disease of capillary proliferation of unknown cause and with a high mortality. Families with multiple affected individuals with PCH suggest a heritable cause although the genetic etiology remains unknown. METHODS: We used exome sequencing to identify a candidate gene for PCH in a family with two affected brothers. We then screened 11 unrelated...
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