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

doi:10.1007/s004390050784

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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, show...

Topics

Arthritis, Rheumatoid
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 6
Consanguinity
Female
Genes, Recessive
Genetic Linkage
Genetic Markers
Genotype
Humans
Male
Osteochondrodysplasias
Pedigree

Source

Open in PubMed

Identifiers

PMID: 9737778
DOI: 10.1007/s004390050784

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9737778-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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