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Article

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2013

de Heredia Miguel López, Clèries Ramón, Nunes Virginia

Abstract excerpt

PURPOSE: Wolfram syndrome is a degenerative, recessive rare disease with an onset in childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different variations in WFS1 have been described in patients with Wolfram syndrome, which complicates the establishment of clear genotype-phenotype correlation. The purpose of this study was to elucidate the role of WFS1 mutations and update the natural...

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Source

Identifiers

PMID: 23429432
DOI: 10.1038/gim.2012.180

Genes

WFS1
CISD2

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.

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