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.
Hanein
Sylvain
S
Unitè de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.
Perrault
Isabelle
I
Gerber
Sylvie
S
Tanguy
Gaëlle
G
Rozet
Jean-Michel
JM
Kaplan
Josseline
J
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