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

• Main Authors: Thi Phuong Hoa Bui (Author), Ngoc Tu Nguyen (Author), Van Doan Ngo (Author), Hoai-Nghia Nguyen (Author), Thi Thanh Ha Ly (Author), Huy Duong Do (Author), Minh-Tuan Huynh (Author)
• Format: Book
• Published: BMC, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 peduncles and a deep interpeduncular fossa, known as "molar tooth sign&...