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Article

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

BMC medical genetics - 30 Jan 2020

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

Abstract excerpt

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" associated with hypotonia, respiratory control disturbances and abnormal eye movements. To date, pathogenic variants in over 35...

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Identifiers

PMID: 32000717
DOI: 10.1186/s12881-020-0962-0
PMCID: PMC6993522

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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