Small copy-number variations involving genes of the FGF pathway in differences in sex development

Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes. Roughly half of these genes (39/83)...

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Autores principales: Hagan, Andrew, Amarillo, Ina E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390097/
https://www.ncbi.nlm.nih.gov/pubmed/28446957
http://dx.doi.org/10.1038/hgv.2017.11
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author Hagan, Andrew
Amarillo, Ina E
author_facet Hagan, Andrew
Amarillo, Ina E
author_sort Hagan, Andrew
collection PubMed
description Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ⩽50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.
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spelling pubmed-53900972017-04-26 Small copy-number variations involving genes of the FGF pathway in differences in sex development Hagan, Andrew Amarillo, Ina E Hum Genome Var Data Report Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ⩽50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD. Nature Publishing Group 2017-04-13 /pmc/articles/PMC5390097/ /pubmed/28446957 http://dx.doi.org/10.1038/hgv.2017.11 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Hagan, Andrew
Amarillo, Ina E
Small copy-number variations involving genes of the FGF pathway in differences in sex development
title Small copy-number variations involving genes of the FGF pathway in differences in sex development
title_full Small copy-number variations involving genes of the FGF pathway in differences in sex development
title_fullStr Small copy-number variations involving genes of the FGF pathway in differences in sex development
title_full_unstemmed Small copy-number variations involving genes of the FGF pathway in differences in sex development
title_short Small copy-number variations involving genes of the FGF pathway in differences in sex development
title_sort small copy-number variations involving genes of the fgf pathway in differences in sex development
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390097/
https://www.ncbi.nlm.nih.gov/pubmed/28446957
http://dx.doi.org/10.1038/hgv.2017.11
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