Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

BACKGROUND: Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases. METHODS: While most variants are novel or extremely rare, we report on 11...

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Detalles Bibliográficos
Autores principales: Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C, D’Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D'Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, Romano, Alfonso, Romaniello, Romina, Stanzial, Franco, Signorini, Sabrina, Strisciuglio, Pietro, Gana, Simone, Mazza, Tommaso, Doherty, Dan, Valente, Enza Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447400/
https://www.ncbi.nlm.nih.gov/pubmed/36788019
http://dx.doi.org/10.1136/jmg-2022-108725

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