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[Mutation analysis for a pedigree affected with keratitis-ichthyosis-deafness syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Li Lulu, Li Yuan, Lin Wei, Zhao Xiuli

Abstract excerpt

OBJECTIVE: To identify mutation of GJB2 gene and provide genetic counseling for a family affected with keratitis-ichthyosis-deafness (KID) syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples with a standard phenol-chloroform method. PCR and Sanger sequencing were used to analyze potential mutation in the proband. Suspected mutation was verified with a PCR-high-resolution melting (PCR-HRM)...

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Identifiers

PMID: 28981923
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.004

Genes

GJB2

Variants

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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