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Article

Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.

Molecular medicine reports - 1 Mar 2013

Xu Qianqian, Qu Huaiyu, Wei Shihui

Abstract excerpt

A 12‑year‑old Chinese girl presented with gradual vision loss and insulin‑dependent diabetes mellitus and was suspected to suffer from Wolfram syndrome (WFS). A series of clinical examinations were performed, as well as direct DNA sequencing to screen the entire coding region of the WFS1 gene in the patient's family, including her parents and a brother....

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Source

Identifiers

PMID: 23338790
DOI: 10.3892/mmr.2013.1277

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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