A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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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 an...
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Full title
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
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TN_cdi_doaj_primary_oai_doaj_org_article_ca03eeb61eff4b5fbd4945c6bd94d3c1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ca03eeb61eff4b5fbd4945c6bd94d3c1
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1995
