Ontology highlight
ABSTRACT:
SUBMITTER: Dheedene A
PROVIDER: S-EPMC3919428 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Dheedene A A Maes M M Vergult S S Menten B B
Molecular syndromology 20131102 1
We describe a boy presenting with intellectual disability and dysmorphic features in whom a cryptic microdeletion in chromosome band 2q12.1 was identified with array CGH. The deletion results in a loss of the POU3F3 and MRPS9 genes. In this paper, we discuss the possible role of POU3F3 haploinsufficiency in relation to the boy's phenotype. ...[more]