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Article

Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6).

Birth defects research - 1 Mar 2026

Hassan Heba A, Esmail Asmaa M, Elbelbesy Mervat, Hassanein Nargues M, Aglan Mona S, Essawi Mona L

Abstract excerpt

BACKGROUND: Split-hand/foot malformations (SHFM) have both dominant and recessive inheritance patterns, but the autosomal recessive forms (SHFM1D and SHFM6) are much rarer and often present with more severe and asymmetrical limb defects compared to the dominant forms. This study aimed to investigate the genetic basis of SHFM in patients presenting with limb anomalies and associated features, contributing to the...

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Source

Identifiers

PMID: 41760400
DOI: 10.1002/bdr2.70031

Genes

DLX5
WNT10B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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