Citations for
1CC2D2A, JBTS9, MKS6
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.
Hum Mutat 30(11):1574-82.PMID: 19777577 2009
2CC2D2A, MKS6
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
Tallila J, Jakkula E, Peltonen L, Salonen R, KestilŠ M.
Am J Hum Genet 82(6):1361-7. 2008