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Article

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

BMC medical genetics - 14 Jan 2020

Sobhani Maryam, Tabatabaiefar Mohammad Amin, Ghafouri-Fard Soudeh, Rajab Asadollah, Hojjat Asal, Kajbafzadeh Abdol-Mohammad, Noori-Daloii Mohammad Reza

Abstract excerpt

BACKGROUND: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and type-2 diabetes mellitus (T2DM). Our study adds to literature significant associations between WS and...

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Identifiers

PMID: 31937257
DOI: 10.1186/s12881-020-0950-4
PMCID: PMC6961406

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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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