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Article

Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.

Clinical orthopaedics and related research - 1 Aug 1997

Cole W G

Abstract excerpt

Two unrelated patients with Kniest dysplasia had the same substitution of a CG dinucleotide in exon 12 of the COL2A1 gene that resulted in alternative splicing and interruption of the triple helix of a1(II) chains of Type II collagen. In early childhood, they shared the typical clinical and radio...

Topics

Bone and Bones
Collagen
Exons
Female
Growth Disorders
Heterozygote
Humans
Infant, Newborn
Mutation
Osteochondrodysplasias
Radiography

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9269170

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9269170-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.PMID 9269170Read ↗

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

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

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

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

Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.Semantic proximity Read ↗

The phenotypic spectrum of COL2A1 mutations.Semantic proximity Read ↗

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal 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 ↗

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Ophthalmic and molecular genetic findings in Kniest dysplasia.Semantic proximity Read ↗

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

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