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Article

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.

American journal of medical genetics - 1 Jan 1991

De Paepe A, Viljoen D, Matton M, Beighton P, Lenaerts V, Vossaert K, De Bie S, Voet D, De Laey J J, Kint A

Abstract excerpt

A multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one...

Topics

Adult
Aged
Belgium
Cardiovascular Diseases
Consanguinity
Female
Genes, Recessive
Humans
Male
Middle Aged
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pseudoxanthoma Elasticum

South Africa

Visual Acuity

Source

Identifiers

PMID: 2012127
DOI: 10.1002/ajmg.1320380105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2012127-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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