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

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

Clinical dysmorphology - 1 Jan 1995

Reardon W, Winter R M, Smith L T, Lake B D, Rossiter M, Baraitser M

Abstract excerpt

Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable similarity of physical signs in all four cases. The striking skin fragility which attends the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Collagen
Share to Endopeptidases

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

Share to Microscopy, Electron

Share to Mutation

Share to Phenotype

Share to Protein Processing, Post-Translational

Source

Identifiers

PMID: 7735500

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

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).PMID 7735500Read ↗

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.Semantic proximity Read ↗

Dermatosparaxis in children. A case report and review of the newly recognized phenotype.Semantic proximity Read ↗

Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management.Semantic proximity Read ↗

[Boy with dermatosparaxis (Ehlers-Danlos type VIIC)].Semantic proximity Read ↗

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.Semantic proximity Read ↗

Classic Ehlers-Danlos syndrome: case report and brief review of literature.Semantic proximity Read ↗

Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB.Semantic proximity Read ↗

Ehlers-Danlos Syndrome in a Mangalarga–Campolina Crossbreed MareSemantic proximity Read ↗

Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients.Semantic proximity Read ↗

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.Semantic proximity Read ↗

Connective tissue disorders in domestic animals.Semantic proximity Read ↗

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.Semantic proximity Read ↗

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