title: A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
abstract: 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.
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Dheedene
authors.affiliation: Center for Developmental Disorders, Ghent, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Maes
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: S
authors.initials: S
authors.lastname: Vergult
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Menten
keywords: 2q12.1; Array CGH; Intellectual disability; MRPS9; POU3F3