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EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report
BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by a biallelic mutation in the gene encoding eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3) on chromosome 2p11.2. This condition is characterized by permanent early-onset diabetes mellitus, epiphyseal dysplasia, and hepatic d...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438019/ https://www.ncbi.nlm.nih.gov/pubmed/30922274 http://dx.doi.org/10.1186/s12887-019-1432-8 |