Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature

Autor: Chacon-Camacho, Oscar F., Zenker, Martin, Schanze, Denny, Ledesma-Gil, Jasbeth, Zenteno, Juan C.
Zdroj: In European Journal of Medical Genetics March 2017 60(3):190-194
Databáze: ScienceDirect