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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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Main Authors: Butler, M, Dasouki, M, Zhou, X, Talebizadeh, Z, Brown, M, Takahashi, T, Miles, J, Wang, C, Stratton, R, Pilarski, R, Eng, C
格式: Artigo
語言:Inglês
出版: BMJ Group 2005
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在線閱讀: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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