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Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults

Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous overgrowth disorder. LDD can be familial or, more commonly, sporadic. It has been only recently recognized that LDD may be associated with Cowden syndrome (CS). Over 80% of patients with CS car...

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書誌詳細
主要な著者: Zhou, Xiao-Ping, Marsh, Deborah J., Morrison, Carl D., Chaudhury, Abhik R., Maxwell, Marius, Reifenberger, Guido, Eng, Charis
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2003
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180498/
https://ncbi.nlm.nih.gov/pubmed/14566704
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