Mutation Screening of the PTEN Gene in Patients With Autism Spectrum Disorders and Macrocephaly

Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, Proteus syndrome, and Lhermitte–Duclos disease. In addition, PTENmutations have been described in a few patients with autism spectrum disorders (ASDs) and...

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Hlavní autoři: Buxbaum, Joseph D., Cai, Guiqing, Chaste, Pauline, Nygren, Gudrun, Goldsmith, Juliet, Reichert, Jennifer, Anckarsäter, Henrik, Rastam, Maria, Smith, Christopher J., Silverman, Jeremy M., Hollander, Eric, Leboyer, Marion, Gillberg, Christopher, Verloes, Alain, Betancur, Catalina
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3381648/
https://ncbi.nlm.nih.gov/pubmed/17427195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.30493
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