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Article

[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Zeng Hui, Xie Li, Tang Mi, Yang Yifeng, Tan Zhiping

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient with oculodentodigital dysplasia. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing. RESULTS: A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger...

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Source

Identifiers

PMID: 29653008
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.028

Genes

GJA1

Variants

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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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