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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Letter to the Editor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113192/
https://ncbi.nlm.nih.gov/pubmed/24886560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-72
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