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

Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente

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Medicine & Life Sciences