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[ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016

Zhao Ximeng, Yang Wei, Sun Miao, Zhang Xue

Abstract excerpt

OBJECTIVE: To identify the causative mutations in two Chinese Han families featuring triphalangeal thumbs (TPT) and preaxial polydactyly (PPD). METHODS: Blood samples were collected from 9 members (2 affected) from family 1 and 14 members (7 affected) from family 2. After genomic DNA was extracted, the ZPA regulatory sequence (ZRS) region was analyzed with real-time quantitative PCR (qPCR) and Sanger sequencing....

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Identifiers

PMID: 27264804
DOI: 10.3760/cma.j.issn.1003-9406.2016.03.001

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