Open AccessThe evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up
Author(s) -
Ejaz Resham,
BabulHirji Riyana,
Chitayat David
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.425
Subject(s) - medicine , natural history , mutation , gene mutation , genetic testing , genetics , bioinformatics , pediatrics , gene , biology
Key Clinical Message Nicolaides–Baraitser syndrome ( NCBRS ) is a rare genetic condition associated with SMARCA 2 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 SMARCA 2 mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form.