Correlation of linkage data with phenotype in eight families with Stickler syndrome.

Article

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

American journal of medical genetics - 2 Nov 1998

Wilkin D J, Mortier G R, Johnson C L, Jones M C, de Paepe A, Shohat M, Wildin R S, Falk R E, Cohn D H

Abstract excerpt

The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were s...

Topics

Collagen
Connective Tissue Diseases
Female
Genetic Linkage
Humans
Male
Pedigree
Phenotype
Syndrome

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