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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Waardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (sensorineural hearing loss and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis). Three genes are known to be involved in this syndrome, that is, EDN3 (endoth...

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Detalhes bibliográficos
Main Authors: Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421117/
https://ncbi.nlm.nih.gov/pubmed/22378281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.29
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