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Article

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

American journal of human genetics - 5 Oct 2012

Spielmann Malte, Brancati Francesco, Krawitz Peter M, Robinson Peter N, Ibrahim Daniel M, Franke Martin, Hecht Jochen, Lohan Silke, Dathe Katarina, Nardone Anna Maria, Ferrari Paola, Landi Antonio, Wittler Lars, Timmermann Bernd, Chan Danny, Mennen Ulrich, Klopocki Eva, Mundlos Stefan

Abstract excerpt

The study of homeotic-transformation mutants in model organisms such as Drosophila revolutionized the field of developmental biology, but how these mutants relate to human developmental defects remains to be elucidated. Here, we show that Liebenberg syndrome, an autosomal-dominant upper-limb malformation, shows features of a homeotic limb transformation in which the arms have acquired morphological...

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Source

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Identifiers

PMID: 23022097
DOI: 10.1016/j.ajhg.2012.08.014
PMCID: PMC3484647

Genes

PITX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.PMID 23022097Read ↗

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