Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Kamal T AbidiNaglaa M KamalAyman A BakkarSaad AlmarriRehab AbdullahMaram AlsufyaniArwa Alharbi

Published in: Medicine (2020)

VICIS is a rare untreatable disorder with worldwide distribution. High index of suspicion is needed to diagnose it and family genetic counselling is crucial.

Keyphrases

genome wide
case report
smoking cessation
hiv testing
copy number
gene expression
men who have sex with men
human immunodeficiency virus