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Article

Three cases of Wolfram syndrome with different clinical aspects.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2015

Çamtosun Emine, Şıklar Zeynep, Kocaay Pınar, Ceylaner Serdar, Flanagan Sarah E, Ellard Sian, Berberoğlu Merih

Abstract excerpt

BACKGROUND: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. SUBJECTS: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pa...

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Source

Identifiers

PMID: 25210753
DOI: 10.1515/jpem-2014-0139

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25210753-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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