Article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Human mutation - 1 May 2017
Issa Sarah, Bondurand Nadege, Faubert Emmanuelle, Poisson Sylvain, Lecerf Laure, Nitschke Patrick, Deggouj Naima, Loundon Natalie, Jonard Laurence, David Albert, Sznajer Yves, Blanchet Patricia, Marlin Sandrine, Pingault Veronique
Abstract excerpt
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with...
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