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

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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...

Topics

Adult
Alleles
Child
Chromosome Mapping
Collagen
DNA
Female
Gene Frequency
Genetic Linkage
Genetic Markers
Haplotypes
Hip Joint
Humans
Male
Osteochondrodysplasias
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 1671807
PMCID: PMC1682978

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1671807-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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