Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1–WS4. Absence of additional features characterizes W...

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Autori principali: Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Human Genetics 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276340/
https://ncbi.nlm.nih.gov/pubmed/17999358
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