martes, 11 de febrero de 2020

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

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
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