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Article

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Journal of medical genetics - 1 Jul 2017

Hansen-Kiss Emily, Beinkampen Sarah, Adler Brent, Frazier Thomas, Prior Thomas, Erdman Steven, Eng Charis, Herman Gail

Abstract excerpt

OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY...

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Source

Identifiers

PMID: 28526761
DOI: 10.1136/jmedgenet-2016-104484

Genes

PTEN

Provenance

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