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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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2022-07-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	Africa Branchio‐otic syndrome EYA1 Mali syndromic hearing impairment
On-line přístup:	https://doi.org/10.1002/mgg3.1995
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