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Article

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.

Human molecular genetics - 1 Sept 2008

Ugur Sibel Aylin, Tolun Aslihan

Abstract excerpt

Split-Hand/Foot Malformation (SHFM) is a complex limb malformation affecting the central rays of the autopod. We studied a large consanguineous kindred afflicted with autosomal recessive SHFM. Twelve affected members had central feet reductions with or without hand involvement while the remaining one had the mildest phenotype and atypical SHFM. We identified by homozygosity mapping a novel SHFM locus at...

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Share to Chromosomes, Human, Pair 12
Share to DNA Mutational Analysis
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18515319
DOI: 10.1093/hmg/ddn164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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