Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline <i>PTEN</i> tumour suppressor gene mutations

Mg, Butler; Mj, Dasouki; Xp, Zhou; Talebizadeh, Zohreh; A. Brown, Melissa; Tn, Takahashi; Jh, Miles; Ch, Wang; Stratton, R.J.; Pilarski, Robert; Eng, Charis

doi:10.1136/jmg.2004.024646

Public

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

Published in Journal of Medical Genetics • Apr 1, 2005

Authors:

Butler Mg

Dasouki Mj

Zhou Xp

Abstract

The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may ha...

Subject

Macrocephaly

Autism

PTEN

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