Article
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
American journal of human genetics - 2 May 2013
Pingault Veronique, Bodereau Virginie, Baral Viviane, Marcos Severine, Watanabe Yuli, Chaoui Asma, Fouveaut Corinne, Leroy Chrystel, Vérier-Mine Odile, Francannet Christine, Dupin-Deguine Delphine, Archambeaud Françoise, Kurtz François-Joseph, Young Jacques, Bertherat Jérôme, Marlin Sandrine, Goossens Michel, Hardelin Jean-Pierre, Dodé Catherine, Bondurand Nadege
Abstract excerpt
Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major actor in the development of the neural crest. It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness, but SOX10 mutations cause a variable phenotype that spreads over...
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