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Article

The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.

Orphanet journal of rare diseases - 28 Jun 2016

Gibson Beth G, Briggs Michael D

Abstract excerpt

The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature syndromes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27353333
DOI: 10.1186/s13023-016-0459-2
PMCID: PMC4924316

Genes

ACAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.PMID 27353333Read ↗

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