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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Bibliografiske detaljer
Main Authors: Sandoval, Gloria Tatiana Vinasco, Jaimes, Giovanna Carola, Barrios, Mauricio Coll, Cespedes, Camila, Velasco, Harvy Mauricio
Format: Artigo
Sprog:Inglês
Udgivet: Wiley Periodicals, Inc. 2014
Fag:
Original Article
Online adgang: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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