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Article

Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.

American journal of medical genetics - 1 Feb 1993

Weaver E J, Summerville G P, Yeh G, Hervada-Page M, Oehlmann R, Rothman R, Jimenez S A, Knowlton R G

Abstract excerpt

We have studied a family with an autosomal dominant form of multiple epiphyseal dysplasia (MED) inherited through at least 5 generations. Bilateral deformity of the hips with subsequent degenerative arthritis was the most common and most severe change observed in the affected relatives. Abnormalities of the knees, ankles, and shoulders were also noted in some affected individuals. Radiological examination showed...

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PMID: 8094597
DOI: 10.1002/ajmg.1320450312

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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