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Article

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

American journal of human genetics - 1 Nov 2008

Gurnett Christina A, Alaee Farhang, Kruse Lisa M, Desruisseau David M, Hecht Jacqueline T, Wise Carol A, Bowcock Anne M, Dobbs Matthew B

Abstract excerpt

Clubfoot is one of the most common severe musculoskeletal birth defects, with a worldwide incidence of 1 in 1000 live births. In the present study, we describe a five-generation family with asymmetric right-sided predominant idiopathic clubfoot segregating as an autosomal-dominant condition with incomplete penetrance. Other lower-limb malformations, including patellar hypoplasia, oblique talus, tibial hemimelia,...

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Source

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Identifiers

PMID: 18950742
DOI: 10.1016/j.ajhg.2008.10.004
PMCID: PMC2668044

Genes

PITX1

Variants

Provenance

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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