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Article

Limb skeletal malformations - what the HOX is going on?

European journal of medical genetics - 1 Jan 2012

Brison Nathalie, Tylzanowski Przemko, Debeer Philippe

Abstract excerpt

Synpolydactyly (SPD) is a rare congenital limb disorder caused by mutations in the HOXD13 gene, a homeobox transcription factor crucial for autopod development. The hallmarks of SPD are the webbing between the third and the fourth finger and the fourth and the fifth toe, with a partial or complete digit duplication in the syndactylous web. Different classes of HOXD13 mutations are involved in the pathogenesis of...

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Source

Identifiers

PMID: 21782042
DOI: 10.1016/j.ejmg.2011.06.003

Genes

HOXD13

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Limb skeletal malformations - what the HOX is going on?PMID 21782042Read ↗

Joining the fingers: a HOXD13 Story.Semantic proximity Read ↗

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Genetics of Limb Development and Congenital Hand MalformationsSemantic proximity Read ↗

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Semantic proximity Read ↗

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