Ontology highlight
ABSTRACT:
SUBMITTER: Budisteanu M
PROVIDER: S-EPMC6231312 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Budisteanu M M Bögershausen N N Papuc S M SM Moosa S S Thoenes M M Riga D D Arghir A A Wollnik B B
Balkan journal of medical genetics : BJMG 20180601 1
Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (<i>SRCAP</i>) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genet ...[more]