Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report | BMC Medical Genetics | Full Text

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report | BMC Medical Genetics | Full Text

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...

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

Citation:BMC Medical Genetics 2020 21:18

Content type:Case report

Published on: 30 January 2020

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