Wolcott–Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of <i>EIF2AK3</i> gene
In the evaluation of infants with diabetic ketoacidosis, genomic DNA sequencing analyses should be performed in all cases of neonatal diabetes mellitus for early diagnosis of Wolcott-Rallison syndrome.
Authors
- Bablu Kumar Gaur (ORCID: https://orcid.org/0000-0003-0473-8048)
- Shruti Jain (ORCID: https://orcid.org/0000-0002-7538-0584)
- Aditi Rawat (ORCID: https://orcid.org/0000-0003-3171-8819)
- C. K. Varshney (ORCID: https://orcid.org/0009-0007-2143-8262)
Institutions
- Teerthanker Mahaveer Medical College & Research Centre (IN)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1515/jpem-2025-0216
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00