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Article

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

BMC medical genetics - 21 Feb 2020

Iqbal Nida S, Jascur Thomas A, Harrison Steven M, Edwards Angelena B, Smith Luke T, Choi Erin S, Arevalo Michelle K, Chen Catherine, Zhang Shaohua, Kern Adam J, Scheuerle Angela E, Sanchez Emma J, Xing Chao, Baker Linda A

Abstract excerpt

BACKGROUND: Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal pathological features: 1) wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, 2) urinary tract dilation with poorly contractile smooth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32085749
DOI: 10.1186/s12881-020-0973-x
PMCID: PMC7035669

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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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