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

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 perfor...

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Detalles Bibliográficos
Autores principales: Sheyanth, Inger Norlyk, Højland, Allan Thomas, Okkels, Henrik, Lolas, Ihab, Thorup, Christian, Petersen, Michael Bjørn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123739/
https://www.ncbi.nlm.nih.gov/pubmed/33666369
http://dx.doi.org/10.1002/mgg3.1639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123739/
https://www.ncbi.nlm.nih.gov/pubmed/33666369
http://dx.doi.org/10.1002/mgg3.1639

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