Article
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
American journal of medical genetics. Part A - 1 Oct 2016
Lin Angela E, Michot Caroline, Cormier-Daire Valerie, L'Ecuyer Thomas J, Matherne G Paul, Barnes Barrett H, Humberson Jennifer B, Edmondson Andrew C, Zackai Elaine, O'Connor Matthew J, Kaplan Julie D, Ebeid Makram R, Krier Joel, Krieg Elizabeth, Ghoshhajra Brian, Lindsay Mark E
Abstract excerpt
Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features, hearing loss, laryngotracheal anomalies, arthropathy, radiographic defects, intellectual disability, and a more recently appreciated spectrum of cardiovascular defects with a striking fibroproliferative response to surgical...
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