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Article

A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.

Journal of tropical pediatrics - 5 Dec 2022

Cokyaman Turgay, Cetin Huriye, Dogan Durmus, Silan Fatma

Abstract excerpt

NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 36661119
DOI: 10.1093/tropej/fmac108

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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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