Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Titel:
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Auteur:
Cauley, Edmund S. Hamed, Ahlam Mohamed, Inaam N. Elseed, Maha Martinez, Samantha Yahia, Ashraf Abozar, Fatima Abubakr, Rayan Koko, Mahmoud Elsayed, Liena Piao, Xianhua Salih, Mustafa A. Manzini, M. Chiara