Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities
Crossref DOI link: https://doi.org/10.1186/s12881-015-0240-8
Published Online: 2015-11-05
Published Print: 2015-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Mroske, Cameron
Rasmussen, Kristen
Shinde, Deepali N.
Huether, Robert
Powis, Zoe
Lu, Hsiao-Mei
Baxter, Ruth M.
McPherson, Elizabeth
Tang, Sha