4.2 Letter

Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA

Related references

Note: Only part of the references are listed.
Review Cell Biology

mTOR at the nexus of nutrition, growth, ageing and disease

Grace Y. Liu et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)

Article Genetics & Heredity

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR

William B. Dobyns et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)