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Article

Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.

Diabetes research and clinical practice - 1 Nov 2014

Thewjitcharoen Yotsapon, Wanothayaroj Ekgaluck, Himathongkam Thep, Flanagan Sarah E, Ellard Sian, Hattersley Andrew T

Abstract excerpt

Many patients with monogenic diabetes are missed or misclassified. Herein, we report a 28-year-old Indian female who developed diabetes at the age of 3 months. An audit of our type 1 diabetes database led to her genetic testing. A KCNJ11 mutation was identified and she was successfully switched t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to DNA Mutational Analysis

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Share to Potassium Channels, Inwardly Rectifying

Source

Identifiers

PMID: 25308342
DOI: 10.1016/j.diabres.2014.09.003

Genes

KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25308342-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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