A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
- Molecular syndromology
دوره 5 1 شماره
صفحات -
تاریخ انتشار 2014