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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Vydáno v:BMC Med Genet
Hlavní autoři: Mroske, Cameron, Rasmussen, Kristen, Shinde, Deepali N., Huether, Robert, Powis, Zoe, Lu, Hsiao-Mei, Baxter, Ruth M., McPherson, Elizabeth, Tang, Sha
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Case Report
On-line přístup: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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