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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Mroske, Cameron, Rasmussen, Kristen, Shinde, Deepali N., Huether, Robert, Powis, Zoe, Lu, Hsiao-Mei, Baxter, Ruth M., McPherson, Elizabeth, Tang, Sha
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Case Report
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires