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

Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar pedun...

Source: BMC Medical Genetics - January 30, 2020 Category: Genetics & Stem Cells Authors: Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do and Minh-Tuan Huynh Tags: Case report Source Type: research