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Article

Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.

Genetics and molecular research : GMR - 17 Jan 2014

Xing X S, Zhu H W, Chen C, Wang S S, Luo Y, Zhang X

Abstract excerpt

Triphalangeal thumb-polysyndactyly syndrome (TPTPS) is an autosomal dominant limb disorder with triphalangeal thumbs, polysyndactyly, and syndactyly. In this study, we describe a four-generation Han Chinese family with eight affected members. Haplotype analysis, Affymetrix SNP 6.0 arrays, qPCR, and gap-PCR were performed. Haplotyping results linked the disease-causing region to the 7q36 region that includes the...

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Identifiers

PMID: 24535850
DOI: 10.4238/2014.January.17.8

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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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