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Article

Genotype-phenotype correlation in clubfoot (talipes equinovarus).

Journal of medical genetics - 1 Mar 2022

Hordyjewska-Kowalczyk Ewa, Nowosad Karol, Jamsheer Aleksander, Tylzanowski Przemko

Abstract excerpt

Clubfoot (talipes equinovarus) is a congenital malformation affecting muscles, bones, connective tissue and vascular or neurological structures in limbs. It has a complex aetiology, both genetic and environmental. To date, the most important findings in clubfoot genetics involve PITX1 variants, which were linked to clubfoot phenotype in mice and humans. Additionally, copy number variations encompassing TBX4 or...

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Identifiers

PMID: 34782442
DOI: 10.1136/jmedgenet-2021-108040

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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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