Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
Perrault
I
I
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75743 Paris Cedex 15, France.
Hanein
S
S
Gerber
S
S
Barbet
F
F
Dufier
J-L
JL
Munnich
A
A
Rozet
J-M
JM
Kaplan
J
J
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*
D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein