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Article

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

PloS one - 1 Jan 2013

Kim Hee-Jin, Won Hong-Hee, Park Kyoung-Jin, Hong Sung Hwa, Ki Chang-Seok, Cho Sang Sun, Venselaar Hanka, Vriend Gert, Kim Jong-Won

Abstract excerpt

Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES) and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean family had typical AD-NSHL running over 6 generations. Linkage analysis was performed by using genome-wide single...

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Identifiers

PMID: 24260153
DOI: 10.1371/journal.pone.0079063
PMCID: PMC3832514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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