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Article

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Nature genetics - 1 Apr 1993

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B U

Abstract excerpt

Kniest and Stickler dysplasia are two chondrodysplasias characterized by specific phenotypes. No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified...

Topics

Adult
Base Composition
Base Sequence
Child, Preschool
Collagen
DNA
DNA Primers
Exons
Female
Fibroblasts
Hair
Humans
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mosaicism

Osteochondrodysplasias

Phenotype

Source

Identifiers

PMID: 7981752
DOI: 10.1038/ng0493-323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7981752-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.PMID 7981752Read ↗

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.Semantic proximity Read ↗

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Semantic proximity Read ↗

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.Semantic proximity Read ↗

Small deletions in the type II collagen triple helix produce Kniest dysplasiaSemantic proximity Read ↗

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].Semantic proximity Read ↗

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaSemantic proximity Read ↗

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defectSemantic proximity Read ↗

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.Semantic proximity Read ↗

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.Semantic proximity Read ↗

The phenotypic spectrum of COL2A1 mutations.Semantic proximity Read ↗

Molecular genetics of the COL2A1-related disorders.Semantic proximity Read ↗

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