Article
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
The Canadian journal of cardiology - 1 Jan 2016
Wünnemann Florian, Kokta Victor, Leclerc Séverine, Thibeault Maryse, McCuaig Catherine, Hatami Afshin, Stheneur Chantal, Grenier Jean-Christophe, Awadalla Philip, Mitchell Grant A, Andelfinger Gregor, Preuss Christoph
Abstract excerpt
BACKGROUND: We report a 13-year-old female patient followed since birth for multiple rare congenital defects, including hypotrichosis, telangiectasia, and severe dilatation of the ascending aorta. METHODS: Comprehensive phenotype assessment throughout childhood included repeated echocardiographic measurements, evaluation of renal function, and immunohistochemical analysis of skin biopsy samples. Whole-exome...
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