title: Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75743 Paris Cedex 15, France.
authors.forename: I
authors.initials: I
authors.lastname: Perrault
authors.forename: S
authors.initials: S
authors.lastname: Hanein
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: F
authors.initials: F
authors.lastname: Barbet
authors.forename: J-L
authors.initials: JL
authors.lastname: Dufier
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J-M
authors.initials: JM
authors.lastname: Rozet
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D000483:Alleles; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein