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

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...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Petit, Florence, Jourdain, Anne-Sophie, Holder-Espinasse, Muriel, Keren, Boris, Andrieux, Joris, Duterque-Coquillaud, Martine, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795241/
https://ncbi.nlm.nih.gov/pubmed/25782671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.53
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