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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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Autori principali: Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2022-07-01
Serie:Molecular Genetics & Genomic Medicine
Soggetti:
Africa
Branchio‐otic syndrome
EYA1
Mali
syndromic hearing impairment
Accesso online:https://doi.org/10.1002/mgg3.1995
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