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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Bibliografski detalji
Glavni autori: Butler, M, Dasouki, M, Zhou, X, Talebizadeh, Z, Brown, M, Takahashi, T, Miles, J, Wang, C, Stratton, R, Pilarski, R, Eng, C
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2005
Teme:
Short Report
Online pristup: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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