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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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Detalles Bibliográficos
Autores principales:	Bui, Thi Phuong Hoa, Nguyen, Ngoc Tu, Ngo, Van Doan, Nguyen, Hoai-Nghia, Ly, Thi Thanh Ha, Do, Huy Duong, Huynh, Minh-Tuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993522/ https://www.ncbi.nlm.nih.gov/pubmed/32000717 http://dx.doi.org/10.1186/s12881-020-0962-0

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