Associated Papers
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K et al.
Human Molecular Genetics, 2011
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
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