Associated Papers
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Harville HM et al.
Journal of Medical Genetics, 2010
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S et al.
Human Mutation, 2009
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2008
Select a paper to view details