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Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

SOX10 protein is a key transcription factor during neural-crest development. Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities and absence of g...

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Detaylı Bibliyografya
Asıl Yazarlar: Sánchez-Mejías, Avencia, Watanabe, Yuli, Fernández, Raquel M., López-Alonso, Manuel, Antiñolo, Guillermo, Bondurand, Nadege, Borrego, Salud
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International 2010
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3235085/
https://ncbi.nlm.nih.gov/pubmed/20130826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-010-0592-7
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