Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Heritable collagen disorders: from phenotype to genotype.

Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie - 1 Jan 1998

De Paepe A

Abstract excerpt

Genetic disorders of collagen comprise a heterogeneous group of disease with pleiotropic manifestations and monogenic inheritance. They are caused by mutations in genes encoding collagen proteins or enzymes involved in collagen biosynthesis. New insights into the molecular basis of two of these conditions are presented here. In Osteogenesis Imperfecta (OI) characterized by bone fragility, mutations in the COL1A1...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen
Share to Genetic Diseases, Inborn
Share to Genotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 9989335

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heritable collagen disorders: from phenotype to genotype.PMID 9989335Read ↗

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findingsSemantic proximity Read ↗

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.Semantic proximity Read ↗

Etiology and pathogenesis of heritable connective tissue diseases.Semantic proximity Read ↗

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Semantic proximity Read ↗

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disordersSemantic proximity Read ↗

Heritable collagen disorders: from genotype to phenotype.Semantic proximity Read ↗

Clinical phenotypes associated with type II collagen mutations.Semantic proximity Read ↗

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.Semantic proximity Read ↗

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.Semantic proximity Read ↗

The collagenopathies: review of clinical phenotypes and molecular correlations.Semantic proximity Read ↗

Genetic and orthopedic aspects of collagen disorders.Semantic proximity Read ↗

The Ehlers-Danlos syndrome, a disorder with many faces.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.