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Article

Identification and Functional Verification of Variants Associated With Clubfoot and Arthrogrypotic Hand Deformation in a Multigeneration Polish Family.

Annals of human genetics - 1 May 2026

Hordyjewska-Kowalczyk Ewa, Ramanujam Akshaya, Odrzywolski Adrian, Verkerk Annemieke, van Meurs Joyce, Kandzierski Grzegorz, Tylzanowski Przemko

Abstract excerpt

BACKGROUND: Clubfoot, or talipes equinovarus (TEV), is an autosomal dominant foot malformation characterized by a variable clinical picture, ranging from mild to severe deformity. While its genetic basis has been partly elucidated, the underlying molecular mechanisms remain incompletely understood. METHODS: We investigated a five-generation Polish family presenting autosomal dominant clubfoot associated with...

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Identifiers

PMID: 41021598
DOI: 10.1111/ahg.70024

Genes

TMEM256
MYH3

Variants

Provenance

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

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