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

Andrew Hagan; Ina E. Amarillo

doi:10.1038/hgv.2017.11

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

Andrew Hagan
, Ina E. Amarillo

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English
Article number	17011
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.11
State	Published - Apr 13 2017

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title = "Small copy-number variations involving genes of the FGF pathway in differences in sex development",

abstract = "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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AU - Amarillo, Ina E.

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Y1 - 2017/4/13

N2 - 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.

AB - 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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JO - Human Genome Variation

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

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