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Article

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

Gene - 25 Jan 2014

Aziz Abdul, Irfanullah, Khan Saadullah, Zimri Faridullah Khan, Muhammad Noor, Rashid Sajid, Ahmad Wasim

Abstract excerpt

Split-hand/split-foot malformation (SHFM), representing variable degree of median clefts of hands and feet, is a genetically heterogeneous group of limb malformations with seven loci mapped on different human chromosomes. However, only 3 genes (TP63, WNT10B, DLX5) for the seven loci have been identified. The study, presented here, described three consanguineous Pakistani families segregating SHFM in autosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hand Deformities, Congenital

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Share to Proto-Oncogene Proteins

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Source

Identifiers

PMID: 24211389
DOI: 10.1016/j.gene.2013.10.047

Genes

DLX5

Variants

Provenance

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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