A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.

Autor: Badv, Reza Shervin1 (AUTHOR), Shariatmadari, Fakhreddin1,2 (AUTHOR), Bayat, Shiva3 (AUTHOR), Memarian, Sara1 (AUTHOR), Esteghamat Hanzae, Samaneh1 (AUTHOR), Yousefimanesh, Hossein1 (AUTHOR) Yousefimaneshhossein@gmail.com
Zdroj: Egyptian Journal of Medical Human Genetics. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.
Databáze: Academic Search Ultimate
Nepřihlášeným uživatelům se plný text nezobrazuje