Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

@article{Polok2009MutationsIC,
  title={Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.},
  author={Bozena Polok and Pascal Escher and A. E. Ambresin and Eliane Chouery and Sylvain Bolay and Isabelle Meunier and Francis Nan and Christian P. Hamel and Francis L. Munier and Bernard Thilo and Andr{\'e} M{\'e}garban{\'e} and Daniel F Schorderet},
  journal={American journal of human genetics},
  year={2009},
  volume={84 2},
  pages={
          259-65
        }
}
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 (SNP) haplotype analysis… CONTINUE READING
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