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

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.

Human genetics - 1 Jul 1998

Fischer J, Urtizberea J A, Pavek S, Vandiedonck C, Bruls T, Saker S, Alkatip Y, Prud'homme J F, Weissenbach J

Abstract excerpt

Progressive pseudorheumatoid dysplasia (PPD), MIM 208230, is an autosomal-recessive disorder, clinically characterized by spondyloepiphyseal dysplasia and progressive arthropathy. Linkage analysis of three families of different geographic and ethnic origin, including 11 affected individuals, showed strong evidence for localization of a gene for progressive pseudorheumatoid dysplasia to chromosome 6q with a...

Read the complete abstract on PubMed

Topics

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

Share to Arthritis, Rheumatoid
Share to Child, Preschool

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

Share to Chromosome Mapping

Share to Genes, Recessive

Share to Genetic Linkage

Share to Genetic Markers

Share to Genotype

Share to Pedigree

Source

Identifiers

PMID: 9737778
DOI: 10.1007/s004390050784

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

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.PMID 9737778Read ↗

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.Semantic proximity Read ↗

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.Semantic proximity Read ↗

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.Semantic proximity Read ↗

Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.Semantic proximity Read ↗

Progressive pseudorheumatoid dysplasia: report of a family and review.Semantic proximity Read ↗

WISP3 mutation associated with pseudorheumatoid dysplasia.Semantic proximity Read ↗

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.Semantic proximity Read ↗

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.Semantic proximity Read ↗

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.Semantic proximity Read ↗

Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.Semantic proximity Read ↗

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.Semantic proximity Read ↗

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.Semantic proximity Read ↗

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