Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Johanna LundinEllen MarkljungIzabella Baranowska KörbergWolfgang HofmeisterJia CaoDaniel NilssonGundela HolmdahlGillian BarkerMagnus AnderbergVladana VukojevićAnna LindstrandAgneta Nordenskjöld

Published in: Molecular genetics & genomic medicine (2019)

Our study further emphasizes the involvement of the 22q11.2 region in BEEC development and highlights LZTR1 as a candidate gene underlying the urogenital malformation.

Keyphrases

copy number
genome wide
genome wide identification
spinal cord injury
dna methylation
gene expression