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Article

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

American journal of medical genetics - 1 Jan 2001

Unger S, Hecht J T

Abstract excerpt

Pseudoachondroplasia (PSACH) (OMIM#177170) and multiple epiphyseal dysplasia (MED) are separate but overlapping osteochondrodysplasias. PSACH is a dominantly inherited disorder characterized by short-limb short stature, loose joints, and early-onset osteoarthropathy. The diagnosis is based on characteristic clinical and radiographic findings. Only mutations in the cartilage oligomeric matrix protein (COMP) gene...

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Source

Identifiers

PMID: 11891674

Genes

COMP
MATN3

Provenance

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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Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.PMID 11891674Read ↗

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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.Semantic proximity Read ↗

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Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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