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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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Mol Genet Genomic Med
Main Authors: Sheyanth, Inger Norlyk, Højland, Allan Thomas, Okkels, Henrik, Lolas, Ihab, Thorup, Christian, Petersen, Michael Bjørn
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2021
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123739/
https://ncbi.nlm.nih.gov/pubmed/33666369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1639
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