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First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

Abstract Background CABP2‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe. Methods Following DNA isolation, exome sequencing was...

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Principais autores: Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2021-04-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
autosomal recessive
CABP2
hearing loss
Acesso em linha:https://doi.org/10.1002/mgg3.1639
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