Article
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
American journal of medical genetics. Part A - 1 Sept 2016
Szafranski Przemyslaw, Coban-Akdemir Zeynep H, Rupps Rosemarie, Grazioli Serge, Wensley David, Jhangiani Shalini N, Popek Edwina, Lee Anna F, Lupski James R, Boerkoel Cornelius F, Stankiewicz Paweł
Abstract excerpt
Mutations in the T-box transcription factor TBX4 gene have been reported in patients with Ischiocoxopodopatellar syndrome (MIM# 147891) and childhood-onset pulmonary arterial hypertension. Whole exome sequencing of DNA from a 1 day old deceased newborn, with severe diffuse developmental lung disorder exhibiting features of acinar dysplasia, and her unaffected parents identified a de novo TBX4 missense mutation...
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