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Article

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

BMC medical genomics - 21 Sept 2023

Fang Liwei, Wang Lulu, Yang Li, Xu Xiaoyan, Pei Shanai, Wu De

Abstract excerpt

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 is usually combined with other organic defects affecting the retina, kidney, and liver. This report aimed to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37735380
DOI: 10.1186/s12920-023-01669-7
PMCID: PMC10512497

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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