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Article

Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Nov 2003

Shu San-Ging, Tsai Chi-Ren, Chi Ching-Shiang

Abstract excerpt

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive devel...

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Identifiers

PMID: 14724730

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14724730-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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