Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Arkani S, Cao J, Lundin J, Nilsson D, Källman T, Barker G, Holmdahl G, Clementsson Kockum C, Matsson H, Nordenskjöld A

Hum Genome Var 5 (-) 18009 [2018-03-29; online 2018-03-29]

Bladder exstrophy is a congenital closure defect of the urinary bladder with a profound effect on morbidity. Although the malformation is usually sporadic, a genetic background is supported by an increased recurrence risk in relatives, higher concordance rates in monozygotic twins and several associated chromosomal aberrations. Recently, the

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PubMed 29619236

DOI 10.1038/hgv.2018.9

Crossref 10.1038/hgv.2018.9

pmc: PMC5874392
ArrayExpress: E-MTAB-5143 https://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-5143/

Publications 9.5.0