Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Orphanet journal of rare diseases - 5 May 2014
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
Abstract excerpt
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 syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild...
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