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

ConclusionWe report the first case ofCABP2‐related autosomal recessive hearing loss in Northern Europe. The index is of Danish Caucasian origin and found to be homozygous for the splice site variant c.637+1G>T.

Source: Molecular Genetics & Genomic Medicine - March 5, 2021 Category: Genetics & Stem Cells Authors: Inger Norlyk Sheyanth, Allan Thomas H øjland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen Tags: CLINICAL REPORT Source Type: research