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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 genotypes were present in these patients. Children with this isolated oculomotor abnormality generally had a diffusely...

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Identifiers

PMID: 1633639
DOI: 10.1111/j.1399-0004.1992.tb03618.x

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