Article
Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.
Journal of neurodevelopmental disorders - 4 Jan 2022
Cummings Katherine, Watkins Alice, Jones Chris, Dias Renuka, Welham Alice
Abstract excerpt
BACKGROUND: Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS). In addition to hamartomas, PTEN aberrations have been associated with a range of non-tumoural phenotypes such as macrocephaly, and research indicates possibly increased rates of...
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