Genetics: mutations in mTOR pathway linked to megalencephaly syndromes.
Pasquale
P
Striano
Federico
F
Zara
D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D058627:Megalencephaly / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009154:Mutation / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*; D013577:Syndrome; D058570:TOR Serine-Threonine Kinases / Q000235:genetics*
C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases