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Article

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019

Booth Kevin T, Askew James W, Talebizadeh Zohreh, Huygen Patrick L M, Eudy James, Kenyon Judith, Hoover Denise, Hildebrand Michael S, Smith Katherine R, Bahlo Melanie, Kimberling William J, Smith Richard J H, Azaiez Hela, Smith Shelley D

Abstract excerpt

PURPOSE: The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family. METHODS: Clinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family. RESULTS: Affected individuals presented with early-onset progressive mild hearing impairment with a fairly flat, gently downsloping or U-shaped...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30245514
DOI: 10.1038/s41436-018-0285-0
PMCID: PMC6431578

Genes

COL11A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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