CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

@article{MougouZerelli2009CC2D2AMI,
  title={CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.},
  author={Soumaya Mougou-Zerelli and Sophie Thomas and Emmanuelle Szenker and Sophie Audollent and Nadia Elkhartoufi and Candice Babarit and St{\'e}phane Romano and R{\'e}mi Salomon and Jeanne Amiel and Chantal Esculpavit and Marie Gonzal{\`e}s and Estelle Escudier and Bruno P. Leheup and Philippe Loget and Sylvie Odent and Jo{\"e}lle Roume and Marion G{\'e}rard and Anne-lise Delezoide and Suonavy Khung and Sophie Patrier and M Cordier and Raymonde Bouvier and Jelena Martinovic and M Gubler and Nathalie Boddaert and Arnold Munnich and F{\'e}r{\'e}cht{\'e} Encha-Razavi and Enza Maria Valente and Ali Kandil Saad and Sophie Saunier and Michel Vekemans and Tania Atti{\'e}-Bitach},
  journal={Human mutation},
  year={2009},
  volume={30 11},
  pages={1574-82}
}
Meckel-Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele, and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting cerebellar vermian hypoplasia/dysplasia. Both conditions are classified as ciliopathies with an autosomal recessive… CONTINUE READING

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