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Article

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

International journal of pediatric otorhinolaryngology - 1 Nov 2016

Zong Ling, Chen Kaitian, Wu Xuan, Liu Min, Jiang Hongyan

Abstract excerpt

OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding...

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Source

Identifiers

PMID: 27729122
DOI: 10.1016/j.ijporl.2016.09.010

Genes

GJB2

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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