Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the underlying molecular defect in ∼60% of Léri-Weill dyschondrosteosis (LWD) and...

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Détails bibliographiques
Auteurs principaux: Benito-Sanz, Sara, Aza-Carmona, Miriam, Rodríguez-Estevez, Amaya, Rica-Etxebarria, Ixaso, Gracia, Ricardo, Campos-Barros, Ángel, Heath, Karen E
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2012
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234524/
https://ncbi.nlm.nih.gov/pubmed/22071895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.210
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