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Article

Rare copy number variants implicated in posterior urethral valves.

American journal of medical genetics. Part A - 1 Mar 2016

Boghossian Nansi S, Sicko Robert J, Kay Denise M, Rigler Shannon L, Caggana Michele, Tsai Michael Y, Yeung Edwina H, Pankratz Nathan, Cole Benjamin R, Druschel Charlotte M, Romitti Paul A, Browne Marilyn L, Fan Ruzong, Liu Aiyi, Brody Lawrence C, Mills James L

Abstract excerpt

The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998-2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using...

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Source

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Identifiers

PMID: 26663319
DOI: 10.1002/ajmg.a.37493
PMCID: PMC6205289

Genes

BMP7
FAT1
FGF12
TBX2
TBX4
TSPAN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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