Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

by Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh
Published 2020-01-01