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Article

Rare copy number variants identified in prune belly syndrome.

European journal of medical genetics - 1 Mar 2018

Boghossian Nansi S, Sicko Robert J, Giannakou Andreas, Dimopoulos Aggeliki, Caggana Michele, Tsai Michael Y, Yeung Edwina H, Pankratz Nathan, Cole Benjamin R, Romitti Paul A, Browne Marilyn L, Fan Ruzong, Liu Aiyi, Kay Denise M, Mills James L

Abstract excerpt

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 29174092
DOI: 10.1016/j.ejmg.2017.11.008
PMCID: PMC5803418

Genes

MYOCD
NOG
STIM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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