A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have s...

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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Johmura, Yoshikazu, Nakagawa, Motoo, Ando, Naoki, Hori, Ikumi, Togawa, Takao, Aoyama, Kohei, Ohashi, Kei, Fukumura, Shinobu, Mizuno, Seiji, Umemura, Ayako, Kishimoto, Yoko, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Nakanishi, Makoto, Saitoh, Shinji
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5237172/
https://ncbi.nlm.nih.gov/pubmed/28086757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0363-6
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