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Article

Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3.

Annals of clinical and laboratory science - 1 Nov 2017

Xiang Rong, Du Ran, Guo Shuai, Jin Jie-Yuan, Fan Liang-Liang, Tang Ju-Yu, Zhou Zheng-Bing

Abstract excerpt

Split hand/foot malformation (SHFM) is a congenital heterogeneous disorder with prominent limb deficiency. Seven loci have been identified to associate with SHFM, including SHFM1 to SHFM6 and SHFM/SHFLD. SHFM3 is an autosomal dominant disease, of which the pathogenesis is closely related to the genomic rearrangements at 10q24.We described two Chinese patients with the SHFM3 phenotype by high-resolution SNP array...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 29263051

Genes

LBX1
POLL
TLX1

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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