Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.

Emmanuelle SouzeauAndrew DubowskyJonathan B RuddleJamie E Craig

Published in: Molecular genetics & genomic medicine (2019)

This study is the first report of a homozygous CYP1B1 whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG. These results illustrate the importance of genetic testing in providing appropriate genetic counseling regarding the risks of recurrence.

Keyphrases

copy number
genome wide
human health
smoking cessation
risk assessment
genome wide identification
climate change
optic nerve