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Human Genetics, ISSN 0340-6717, 9/1998, Volume 103, Issue 2, pp. 124 - 130
Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by night blindness, nystagmus, myopia, a variable decrease in... 
CHROMOSOME | SHORT ARM | ISLAND EYE DISEASE | GENETICS & HEREDITY | DXS7 | LINKAGE ANALYSIS | CSNB1 | LOCUS | REGION | Adaptation, Physiological | Electroretinography | Darkness | Humans | Male | Chromosome Mapping | Night Blindness - congenital | Pedigree | Night Blindness - physiopathology | X Chromosome | Female | Night Blindness - genetics | Genetic Linkage
Journal Article
Canadian Journal of Ophthalmology, ISSN 0008-4182, 06/2000, Volume 35, Issue 4, p. 204
Interpretation: Although the patients shared a common CACNA1F mutation, there was considerable variability in the clinical expression of the incomplete CSNB... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2005, Volume 77, Issue 3, p. 477
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral... 
Genes | Low density lipoprotein receptors | Mental retardation
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 10/2005, Volume 47, Issue 10, pp. 691 - 695
Cerebellar hypoplasia is a rare malformation caused by a variety of etiologies. It usually manifests clinically as non‐progressive cerebellar ataxia with or... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2008, Volume 146A, Issue 6, pp. 745 - 757
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 05/2008, Volume 105, Issue 21, pp. E25 - E25
Journal Article