Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism
Article in Frontiers in Pediatrics (March 2024)
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Article in Frontiers in Pediatrics (March 2024)
Article in Journal of Cell Science (February 2023)
Article in American Journal of Ophthalmology (December 2022)