Ontology highlight
ABSTRACT:
SUBMITTER: Zarate YA
PROVIDER: S-EPMC5297989 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20161024 2
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The ...[more]