Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndr...

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Detalles Bibliográficos
Autores principales: Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113192/
https://www.ncbi.nlm.nih.gov/pubmed/24886560
http://dx.doi.org/10.1186/1750-1172-9-72

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