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Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
: PTEN Hamartoma Tumour syndrome Cowden syndrome
2015/12/21
PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS),
and other conditions resulting from germline mutation of the PTEN tumour suppressor gene...
Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder
constitutional Pten dysfunction mice
2015/12/21
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a clear, but heterogeneous, genetic component. Germline
mutations in the tumor suppressor Pten are a well-established risk factor...