Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II
IntroductionWaardenburg syndrome (WS) is a genetic disorder characterized by hearing loss, hypopigmentation, and distinct facial features. Despite > 60% molecular diagnosis rate for WS patients, pathogenic variants within coding regions are predominant, with few non-coding copy number variations...
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| Principais autores: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2024-06-01
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| coleção: | Frontiers in Audiology and Otology |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fauot.2024.1400991/full |
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