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Article

Molecular genetic basis of the human chondrodysplasias.

Endocrinology and metabolism clinics of North America - 1 Sept 1996

Horton W A

Abstract excerpt

Considerable progress has been made in delineating the molecular genetic basis of the human chondrodysplasias. Two genes emerge as harboring mutations found in patients with the most common disorders. Mutations in the type II collagen gene account for most spondyloepiphyseal dysplasia and spondyl...

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Identifiers

PMID: 8879993
DOI: 10.1016/s0889-8529(05)70347-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8879993-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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