A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family

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, middle,...

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Detalles Bibliográficos
Autores principales: Yalcouyé, Abdoulaye, Traoré, Oumou, Diarra, Salimata, Schrauwen, Isabelle, Esoh, Kevin, Kadlubowska, Magda Kamila, Bharadwaj, Thashi, Adadey, Samuel Mawuli, Kéita, Mohamed, Guinto, Cheick O., Leal, Suzanne M., Landouré, Guida, Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266589/
https://www.ncbi.nlm.nih.gov/pubmed/35698919
http://dx.doi.org/10.1002/mgg3.1995

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266589/
https://www.ncbi.nlm.nih.gov/pubmed/35698919
http://dx.doi.org/10.1002/mgg3.1995

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