Article
Gaucher patients with oculomotor abnormalities do not have a unique genotype.
Clinical genetics - 1 Jan 1992
Sidransky E, Tsuji S, Stubblefield B K, Currie J, FitzGibbon E J, Ginns E I
Abstract excerpt
Sixteen non-Ashkenazic American children with Gaucher disease who demonstrate slowing of the horizontal saccades are described. Attempts to correlate this specific clinical phenotype with a unique genotype were unsuccessful. Focusing on the three most common mutations, at least five different gen...
Topics
- Adolescent
- Alleles
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Electroencephalography
- Female
- Gaucher Disease
- Genotype
- Humans
- Infant
- Male
- Molecular Sequence Data
- Ocular Motility Disorders
- Phenotype
- Saccades