Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Abstract 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...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2023-09-01T00:00:00Z.
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