Variability of Stickler syndrome.

doi:10.1002/ajmg.1320420316

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Article

Variability of Stickler syndrome.

American journal of medical genetics - 1 Feb 1992

Zlotogora J, Sagi M, Schuper A, Leiba H, Merin S

Abstract excerpt

Stickler syndrome is a dominantly inherited disorder characterized by ocular and nonocular manifestations. The phenotype of the affected patients is known to be variable. Our study of 3 families and a review of the literature show that the variability is mostly interfamilial while in each family...

Topics

Abnormalities, Multiple
Connective Tissue Diseases
Eye Diseases
Genes, Dominant
Genetic Variation
Humans
Pedigree
Syndrome

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