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Article

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

Journal of human genetics - 1 Nov 2016

Guan Jing, Wang Dayong, Cao Wenjian, Zhao Yali, Du Renqian, Yuan Hu, Liu Qiong, Lan Lan, Zong Liang, Yang Ju, Yin Zifang, Han Bing, Zhang Feng, Wang Qiuju

Abstract excerpt

The ossicles represent one of the most fundamental morphological features in evolutionary biology of the mammalians. The mobile ossicular morphology abnormalities result in the severe conductive hearing loss. Development and patterning of the middle ear malformation depend on genetic and environmental causes. However, the genetic basis for the risk of congenital ossicle malformation is poorly understood. We show...

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Identifiers

PMID: 27383657
DOI: 10.1038/jhg.2016.86
PMCID: PMC5411491

Genes

SIX2

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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