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

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...

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Autori principali: Butler, M, Dasouki, M, Zhou, X, Talebizadeh, Z, Brown, M, Takahashi, T, Miles, J, Wang, C, Stratton, R, Pilarski, R, Eng, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736032/
https://ncbi.nlm.nih.gov/pubmed/15805158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.024646
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