Ontology highlight
ABSTRACT:
SUBMITTER: Tzeng M
PROVIDER: S-EPMC5671763 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20140403 7
Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile hypertonia and upper airway obstruction. The propositus had a novel de novo heterozygous missense mutation in exon 17 of SMARCA4 (NM_0011 ...[more]