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Article

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.

American journal of medical genetics - 1 Dec 1994

Beighton P, Cilliers H J, Ramesar R

Abstract excerpt

Molecular investigations have been undertaken in several separate large South African families with autosomal dominant skeletal dysplasias in which premature degenerative osteoarthropathy of the hip joint was the major manifestation. There are sometimes additional minor changes in the spine and these conditions fall into the general spondyloepiphyseal dysplasia (SED) nosological category. In some kindreds,...

Topics

Chromosome Aberrations
Chromosome Disorders
Collagen
DNA Probes
Genes, Dominant
Genetic Linkage
Hip Dislocation, Congenital
Humans
Hybridization, Genetic
Osteochondrodysplasias
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

South Africa

Source

Identifiers

PMID: 7864044
DOI: 10.1002/ajmg.1320530408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7864044-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.PMID 7864044Read ↗

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