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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.

SUBMITTER: Dheedene A 

PROVIDER: S-EPMC3919428 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.

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]

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