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Article

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

25 Mar 2014

Abstract excerpt

17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing TP53 has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the...

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PMID: 24668897
DOI: 10.1002/ajmg.a.36477

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