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Novel variants identified in five Chinese families with Joubert Syndrome: a case report

BACKGROUND: Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay. Having a complicated genotype-phenotype correlation due to its rich genetic heterogeneity, JS...

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Detalles Bibliográficos
Autores principales:	Fang, Liwei, Wang, Lulu, Yang, Li, Xu, Xiaoyan, Pei, Shanai, Wu, De
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512497/ https://www.ncbi.nlm.nih.gov/pubmed/37735380 http://dx.doi.org/10.1186/s12920-023-01669-7

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