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  • Title: [Genetic study of a pedigree affected with oculodentodigital dysplasia].
    Author: Gu L, Zhu Y, Zhu X, Li J.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec 10; 36(12):1191-1194. PubMed ID: 31813145.
    Abstract:
    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 variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.
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