Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

doi:10.1038/ng0995-87

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Article

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Nature genetics - 1 Sept 1995

Tiller G E, Polumbo P A, Weis M A, Bogaert R, Lachman R S, Cohn D H, Rimoin D L, Eyre D R

Abstract excerpt

The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage. Current classification is based on mode of inheritance as well as clinical, histologic, and/or radiographic features. A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. This spectrum includes...

Topics

Adult
Base Sequence
Child
Collagen
Cysteine
DNA Mutational Analysis
DNA, Complementary
Female
Genes, Dominant
Glycine
Humans
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Osteochondrodysplasias

Pedigree

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 7550321
DOI: 10.1038/ng0995-87

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7550321-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.PMID 7550321Read ↗

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