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Article

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

Journal of medical genetics - 1 Sept 2002

Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G

Abstract excerpt

We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 between markers...

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Identifiers

PMID: 12205105
DOI: 10.1136/jmg.39.9.634
PMCID: PMC1735219

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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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Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.PMID 12205105Read ↗

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