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Article

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

European journal of human genetics : EJHG - 1 Jan 2016

Petit Florence, Jourdain Anne-Sophie, Holder-Espinasse Muriel, Keren Boris, Andrieux Joris, Duterque-Coquillaud Martine, Porchet Nicole, Manouvrier-Hanu Sylvie, Escande Fabienne

Abstract excerpt

The expression gradient of the morphogen Sonic Hedgehog (SHH) is crucial in establishing the number and the identity of the digits during anteroposterior patterning of the limb. Its anterior ectopic expression is responsible for preaxial polydactyly (PPD). Most of these malformations are due to the gain-of-function of the Zone of Polarizing Activity Regulatory Sequence, the only limb-specific enhancer of SHH...

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Identifiers

PMID: 25782671
DOI: 10.1038/ejhg.2015.53
PMCID: PMC4795241

Genes

SHH

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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