Logotipo del repositorio
 

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

Vista sencilla de ítem
dc.contributor.authorVinasco Sandoval, Gloria Tatiana
dc.contributor.authorJaimes, Giovanna Carola
dc.contributor.authorColl Barrios, Mauricio
dc.contributor.authorCéspedes Salazar, Camila
dc.contributor.authorVelasco, Harvy Mauricio
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Endocrinología
dc.coverage.spatialColombiaspa
dc.date.accessioned2020-10-28T01:40:44Z
dc.date.available2020-10-28T01:40:44Z
dc.date.created2014
dc.description.abstractenglishSHOX 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 this study, the multiplex ligation‐dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS.spa
dc.description.paginas95-102spa
dc.description.quartilescopusQ4spa
dc.description.tipoarticuloArtículo originalspa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.format.soporteElectrónicospa
dc.identifierhttps://onlinelibrary.wiley.com/doi/10.1002/mgg3.39spa
dc.identifier.doihttps://doi.org/10.1002/mgg3.39spa
dc.identifier.issn2324-9269 (Electrónico)spa
dc.identifier.urihttp://hdl.handle.net/10554/51542
dc.languageInglésspa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceMolecular Genetics and Genomic Medicine; Vol. 2 Núm. 2 (2014)spa
dc.titleSHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short staturespa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

Archivos

Bloque original
Mostrando 1 - 1 de 1
Miniatura
Nombre:
mgg3.39.pdf
Tamaño:
702.26 KB
Formato:
Adobe Portable Document Format
Descripción:
Artículo
Descargar
Bloque de licencias
Mostrando 1 - 1 de 1
No hay miniatura disponible
Nombre:
license.txt
Tamaño:
2.54 KB
Formato:
Item-specific license agreed upon to submission
Descripción:
Descargar

Colecciones

Artículos
Artículos