Ontology highlight
ABSTRACT:
SUBMITTER: Ejaz R
PROVIDER: S-EPMC4831382 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Ejaz Resham R Babul-Hirji Riyana R Chitayat David D
Clinical case reports 20160228 4
Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow-up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form. ...[more]