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Article

[Genetic study of a pedigree affected with oculodentodigital dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Gu Leilei, Zhu Yujie, Zhu Xiangyu, Li Jie

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia. METHODS: Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing. RESULTS: Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P). CONCLUSION: The missense c.221A>C...

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Identifiers

PMID: 31813145
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.010

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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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