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Article

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

American journal of medical genetics. Part A - 1 Jun 2026

Nordenskjöld Agneta, Alm Samara, Eisfeldt Jesper, Cao Jia, Anderberg Magnus, Barker Gillian, Matsson Hans, Holmdahl Gundela, Lindstrand Anna, Lagerstedt-Robinson Kristina

Abstract excerpt

Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including components of the WNT signaling pathway have been proposed. This study aimed...

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Identifiers

PMID: 41668247
DOI: 10.1002/ajmga.70074

Genes

CSNK1E
IFT122
KIF19
SDK1
SDK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.PMID 41668247Read ↗

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