Literature DB >> 24550763

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

A Dheedene1, M Maes2, S Vergult1, B Menten1.   

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.

Entities:  

Keywords:  2q12.1; Array CGH; Intellectual disability; MRPS9; POU3F3

Year:  2013        PMID： 24550763      PMCID： PMC3919428          DOI： 10.1159/000356060

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  24 in total

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  9 in total

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