title: 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.
authors.affiliation: Unitè de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Hanein
authors.forename: Isabelle
authors.initials: I
authors.lastname: Perrault
authors.forename: Sylvie
authors.initials: S
authors.lastname: Gerber
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Tanguy
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D017668:Age of Onset; D000483:Alleles; D001766:Blindness / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic