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Article

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.

European journal of human genetics : EJHG - 1 May 2009

Li Hui, Wang Cheng-Ye, Wang Jia-Xin, Wu Gui-Sheng, Yu Ping, Yan Xiao-Yi, Chen Yong-Gang, Zhao Lu-Hang, Zhang Ya-Ping

Abstract excerpt

Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping and haplotype construction, we located the linked region to a 1.7 cM interval between flanking markers D7S2465 and D7S2423 of chromosome 7q36. We directly...

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Source

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Identifiers

PMID: 19066618
DOI: 10.1038/ejhg.2008.240
PMCID: PMC2986254

Genes

LMBR1
NOM1
RNF32

Provenance

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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