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

Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.

American journal of medical genetics. Part A - 1 Aug 2004

Pallotta Rosanna, Ehresmann Tamara, Fusilli Paola, De Paepe Anne, Nuytinck Lieve

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Ehlers-Danlos Syndrome
Share to Genotype
Share to Hand

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

Share to Phenotype

Share to Radiography

Source

Identifiers

PMID: 15264295
DOI: 10.1002/ajmg.a.20576

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.PMID 15264295Read ↗

Ehlers-Danlos syndrome: variable expression in sibs.Semantic proximity Read ↗

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.Semantic proximity Read ↗

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Semantic proximity Read ↗

Ehlers-Danlos syndrome.Semantic proximity Read ↗

Skin signs as early manifestations of Hutchinson-Gilford progeria syndrome.Semantic proximity Read ↗

Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndromeSemantic proximity Read ↗

The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome).Semantic proximity Read ↗

Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia.Semantic proximity Read ↗

Ehler's Danlos syndrome with atypical foot deformity.Semantic proximity Read ↗

Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation.Semantic proximity Read ↗

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Semantic proximity Read ↗

[Molecular basis of the classical type of Ehlers-Danlos syndrome].Semantic proximity Read ↗

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