@article{Polok:160048,
      title = {Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with  Amelogenesis Imperfecta},
      author = {Polok, Bozena and Escber, Pascal and Ambresin, Aude and  Chouery, Eliane and Bolay, Sylvain and Meunier, Isabelle  and Nan, Francis and Hamel, Christian and Munier, Francis  L. and Thilo, Bernard and Megarbane, Andre and Schorderet,  Daniel F.},
      journal = {American Journal Of Human Genetics},
      volume = {84},
      pages = {259-265},
      year = {2009},
      abstract = {Cone-rod dystrophies are inherited dystrophies of the  retina characterized by the accumulation of deposits mainly  localized to the cone-rich macular region of the eye.  Dystrophy can be limited to the retina or be part of a  syndrome. Unlike nonsyndromic cone-rod dystrophies,  syndromic cone-rod dystrophies are genetically  heterogeneous with mutations in genes encoding structural,  cell-adhesion, and transporter proteins. Using a  genome-wide single-nucleotide polymorphism (SNIP) haplotype  analysis to fine map the locus and a gene-candidate  approach, we Identified homozygous mutations in the ancient  conserved domain protein 4 gene (CNNM4) that either  generate a truncated protein or occur in highly conserved  regions of the protein. Given that CNNM4 is implicated in  metal ion transport, cone-rod dystrophy and amelogenesis  imperfecta may originate from abnormal ion homeostasis.},
}