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

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 w...

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Veröffentlicht in:BMC Med Genet
Hauptverfasser: Bui, Thi Phuong Hoa, Nguyen, Ngoc Tu, Ngo, Van Doan, Nguyen, Hoai-Nghia, Ly, Thi Thanh Ha, Do, Huy Duong, Huynh, Minh-Tuan
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2020
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6993522/
https://ncbi.nlm.nih.gov/pubmed/32000717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0962-0
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