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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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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer International
2010
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| Schlagworte: | |
| Online Zugang: | 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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