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Article

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect

3 Mar 1997

Abstract excerpt

Kniest dysplasia is a severe chondrodysplasia caused by the defective formation of type II collagen. We report about Dr. Kniest, who first described the condition in 1952, and his patient, who, at the age of 50 years is severely handicapped with short stature, restricted joint mobility, and blindness but is mentally alert and leads an active life. Molecular analysis of the patient's DNA showed a single base (G)...

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Identifiers

PMID: 9066888
DOI: 10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defectPMID 9066888Read ↗

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

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

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

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.Semantic proximity Read ↗

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

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’Semantic proximity Read ↗

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

Three cases of molecularly confirmed Knobloch syndrome.Semantic proximity Read ↗

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.Semantic proximity Read ↗

Mutations in collagen 18A1 and their relevance to the human phenotype.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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