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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Main Authors: Sandoval, Gloria Tatiana Vinasco, Jaimes, Giovanna Carola, Barrios, Mauricio Coll, Cespedes, Camila, Velasco, Harvy Mauricio
Formato: Artigo
Idioma:Inglês
Publicado: Wiley Periodicals, Inc. 2014
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3960050/
https://ncbi.nlm.nih.gov/pubmed/24689071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.39
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