ArticleExperimental and therapeutic medicine2019
Wolcott-Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 4 citations in OpenAlex.
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- Immunologic phenotype of a child with the MEHMO syndrome.Physiological research · 2020Article
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2 authors at 1 institution in 1 country.
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Abstract
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, skeletal dysplasia and growth retardation. Other associated disorders include severe liver and renal dysfunction, and central hypothyroidism. Mutations in the eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3), which is located at chromosome 2p12, are responsible for this disorder. In the present case report, the case of a 3-month old boy diagnosed as neonatal diabetes, who had acute liver failure soon afterwards is detailed. This diagnosis was confirmed through the identification of a novel nonsense mutation in exon 1 of EIF2AK3. The aim of the current case report was to raise awareness for patients with WRS with neonatal diabetes mellitus, particularly those with multiple systemic manifestations.
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