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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Benito-Sanz, Sara, Aza-Carmona, Miriam, Rodríguez-Estevez, Amaya, Rica-Etxebarria, Ixaso, Gracia, Ricardo, Campos-Barros, Ángel, Heath, Karen E
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
Soggetti:
Short Report
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi