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See Latest ArticlesCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
Human Mutation, 09/29/09
Mougou–Zerelli S et al. – The results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease. Therefore, and in accordance with the data reported regarding RPGRIP1L, the results indicate phenotype–genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS.
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