Associated Papers
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.
Miyamoto Y et al.
Journal of Human Genetics, 2025
The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.
Wang X et al.
Scientific Reports, 2025
Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.
Renard E et al.
American Journal of Medical Genetics. Part A, 2024
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