De Barsy syndrome due to ALDH18A1 mutation – Expanding the spectrum of a rare neurocutaneous syndrome

Autor: Gomathy, Saranya B., Karthika, Ajit Valaparambil, Reddy, Balaswamy, Anilkumar, Adarsh, Fasaludeen, Alfiya, Sundaram, Soumya, Thomas, Bejoy, Menon, Ramshekhar N.
Zdroj: In Human Gene May 2024 40
Databáze: ScienceDirect