Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Autor: Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.
Zdroj: In The American Journal of Human Genetics 4 December 2014 95(6):721-728
Databáze: ScienceDirect