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,...

Descripció completa

Dades bibliogràfiques

Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2022-07-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	Africa Branchio‐otic syndrome EYA1 Mali syndromic hearing impairment
Accés en línia:	https://doi.org/10.1002/mgg3.1995
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!