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

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2010

Malfait Fransiska, Wenstrup Richard J, De Paepe Anne

Abstract excerpt

Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type V
Share to Connective Tissue

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

Share to Ehlers-Danlos Syndrome

Share to Genotype

Share to Haploinsufficiency

Share to Joint Instability

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 20847697
DOI: 10.1097/GIM.0b013e3181eed412

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

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.PMID 20847697Read ↗

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.Semantic proximity Read ↗

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.Semantic proximity Read ↗

Molecular genetics in classic Ehlers-Danlos syndrome.Semantic proximity Read ↗

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

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.Semantic proximity Read ↗

[Ehlers-Danlos syndromes].Semantic proximity Read ↗

Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review.Semantic proximity Read ↗

Ehlers-Danlos syndrome, classical type.Semantic proximity Read ↗

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patientsSemantic proximity Read ↗

The Ehlers-Danlos syndromes.Semantic proximity Read ↗

The Ehlers-Danlos syndromes, rare types.Semantic proximity Read ↗

A review of Ehlers-Danlos syndrome.Semantic proximity Read ↗

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