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Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia

Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurol...

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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Adachi, Tadashi, Takigawa, Hiroshi, Nomura, Takashi, Watanabe, Yasuhiro, Kowa, Hisanori
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5799065/
https://ncbi.nlm.nih.gov/pubmed/29033429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.9052-17
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