Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
Abstract
:1. Introduction
2. Materials and Methods
2.1. Family Trio
2.2. Whole Exome Sequencing
2.3. Sanger Sequencing and Quantitative Polymerase Chain Reaction
3. Results
3.1. Clinical Description
3.2. Genetic Findings
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Cabrita Pinto, R.L.; Viaggi, S.; Canale, E.; Martinez Popple, M.; Capra, V.; Conteduca, G.; Testa, B.; Coviello, D.; Covone, A.E. Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. Genes 2023, 14, 810. https://doi.org/10.3390/genes14040810
Cabrita Pinto RL, Viaggi S, Canale E, Martinez Popple M, Capra V, Conteduca G, Testa B, Coviello D, Covone AE. Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. Genes. 2023; 14(4):810. https://doi.org/10.3390/genes14040810
Chicago/Turabian StyleCabrita Pinto, Rute Luísa, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, and Angela Elvira Covone. 2023. "Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome" Genes 14, no. 4: 810. https://doi.org/10.3390/genes14040810