A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
Abstract Background Branchio‐otic syndrome (BO) is one of the most common types of syndromic hearing impairment (HI) with an incidence of 1/40,000 globally. It is an autosomal dominant disorder typically characterized by the coexistence of branchial cysts or fistulae, malformations of the external,...
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| Principais autores: | , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2022-07-01
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| coleção: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/mgg3.1995 |
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