Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

BACKGROUND: In humans, Mammalian Target of Rapamycin (MTOR) encodes a 300 kDa serine/ threonine protein kinase that is ubiquitously expressed, particularly at high levels in brain. MTOR functions as an integrator of multiple cellular processes, and in so doing either directly or indirectly regulates...

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Pubblicato in:BMC Med Genet
Autori principali: Mroske, Cameron, Rasmussen, Kristen, Shinde, Deepali N., Huether, Robert, Powis, Zoe, Lu, Hsiao-Mei, Baxter, Ruth M., McPherson, Elizabeth, Tang, Sha
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4635597/
https://ncbi.nlm.nih.gov/pubmed/26542245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0240-8
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