Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA

Adv Exp Med Biol. 2006:572:15-20. doi: 10.1007/0-387-32442-9_3.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alleles
  • Blindness / diagnosis*
  • Blindness / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Family Health
  • Genetic Linkage
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation
  • Optic Atrophy, Hereditary, Leber / diagnosis*
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Phenotype
  • Polymorphism, Genetic