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Genotype–phenotype correlates in Joubert syndrome: A review

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable organ involvement. Over 40 causative genes have been identified to date, explaining up to 94% of cases. To date, gene‐p...

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Detalles Bibliográficos
Autores principales: Gana, Simone, Serpieri, Valentina, Valente, Enza Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314610/
https://www.ncbi.nlm.nih.gov/pubmed/35238134
http://dx.doi.org/10.1002/ajmg.c.31963