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Article

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

Molecular genetics & genomic medicine - 1 Apr 2021

Sheyanth Inger Norlyk, Højland Allan Thomas, Okkels Henrik, Lolas Ihab, Thorup Christian, Petersen Michael Bjørn

Abstract excerpt

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 performed in 123 genes related to non-syndromic hearing loss. Variant verification and carrier testing were performed by...

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Identifiers

PMID: 33666369
DOI: 10.1002/mgg3.1639
PMCID: PMC8123739

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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