2022
DOI: 10.1002/mgg3.1995
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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, middle, and inner ears with preauricular pits or tags and a variable degree of HI. Most cases of BO have been reported in populations of European ancestry. To date, only few cases have been reported in people from African de… Show more

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