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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 similar to those of the original Stickler syndrome family [Stickler et al., Mayo. Clin. Proc. 40:433-455, 1965] and...

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Source

Identifiers

PMID: 9805127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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