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Article

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

European journal of medical genetics - 1 Jan 2000

Lundin Johanna, Söderhäll Cilla, Lundén Lina, Hammarsjö Anna, White Iréne, Schoumans Jacqueline, Läckgren Göran, Kockum Christina Clementson, Nordenskjöld Agneta

Abstract excerpt

Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development. A few bladder exstrophy patients have been described to carry chromosomal aberrations. Chromosomal rearrangements of 22q11.2 are implicated in several genomic disorders i.e....

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

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Identifiers

PMID: 20045748
DOI: 10.1016/j.ejmg.2009.11.004

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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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