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Article

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

American journal of human genetics - 1 Mar 1991

Sher C, Ramesar R, Martell R, Learmonth I, Tsipouras P, Beighton P

Abstract excerpt

Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates...

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Identifiers

PMID: 1671807
PMCID: PMC1682978

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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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Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.PMID 1671807Read ↗

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

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.Semantic proximity Read ↗

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.Semantic proximity Read ↗

Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?Semantic proximity Read ↗

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).Semantic proximity Read ↗

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.Semantic proximity Read ↗

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.Semantic proximity Read ↗

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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.Semantic proximity Read ↗

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.Semantic proximity Read ↗

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.Semantic proximity Read ↗

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