Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical features of Joubert Syndrome (JBTS): “Molar Tooth Sign”...

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Detalles Bibliográficos
Autores principales: Cabrita Pinto, Rute Luísa, Viaggi, Silvia, Canale, Edoardo, Martinez Popple, Marina, Capra, Valeria, Conteduca, Giuseppina, Testa, Barbara, Coviello, Domenico, Covone, Angela Elvira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137517/
https://www.ncbi.nlm.nih.gov/pubmed/37107568
http://dx.doi.org/10.3390/genes14040810

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