Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
Romani M, et al. Among authors: castellana s.
Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.
Orphanet J Rare Dis. 2014.
PMID: 24886560
Free PMC article.