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Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Authors :
Ja-Hyun Jang
Dohwan Lee
Cha Gon Lee
Source :
Journal of Genetic Medicine. 16:27-30
Publication Year :
2019
Publisher :
Korean Society of Medical Genetics, 2019.

Subjects

Subjects :
Germline mutation
Intellectual disability
medicine
Cancer research
Megalencephaly
Biology
medicine.disease
PI3K/AKT/mTOR pathway

Details

ISSN :
23838442 and 12261769
Volume :
16
Database :
OpenAIRE
Journal :
Journal of Genetic Medicine
Accession number :
edsair.doi...........aa95f6f5ddb0b2f3ef78af937cfb2fbe
Full Text :
https://doi.org/10.5734/jgm.2019.16.1.27
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