An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.
Michaelides
M
M
Bloch-Zupan
A
A
Holder
G E
GE
Hunt
D M
DM
Moore
A T
AT
D000567:Amelogenesis Imperfecta / Q000235:genetics / Q000473:pathology*; D000818:Animals; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000473:pathology; D054815:Cyclic Nucleotide-Gated Cation Channels; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003743:Dental Enamel / Q000002:abnormalities; D005192:Family Health; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology*; D012162:Retinal Degeneration / Q000473:pathology; D014070:Tooth / Q000196:embryology / Q000254:growth & development / Q000378:metabolism
D054815:Cyclic Nucleotide-Gated Cation Channels; D007473:Ion Channels; D004247:DNA