SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3–15% frequency. In...

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Detalles Bibliográficos
Autores principales: Sandoval, Gloria Tatiana Vinasco, Jaimes, Giovanna Carola, Barrios, Mauricio Coll, Cespedes, Camila, Velasco, Harvy Mauricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960050/
https://www.ncbi.nlm.nih.gov/pubmed/24689071
http://dx.doi.org/10.1002/mgg3.39

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