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Is 1p36 deletion associated with anterior body wall defects?

4 May 2016

Abstract excerpt

Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and severe ends of the bladder exstrophy-epispadias complex (BEEC) spectrum. In 2009, El-Hattab et al. reported the first patient with OEIS complex associated with a chromosome 1p36 deletion. Here we report a second patient with 1p36 deletion who...

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PMID: 27144803
DOI: 10.1002/ajmg.a.37666

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