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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: BioMed Central 2014
الموضوعات:
Letter to the Editor
الوصول للمادة أونلاين: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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