Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome

Autor: Mok, Kent M., Carpenter, Jessica L., Herrada, Pamela, Greene, Carol, Yazbek, Sandrine, Erdemir, Gozde
Zdroj: In Pediatric Neurology December 2024 161:185-187
Databáze: ScienceDirect