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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...
Gorde:
| Argitaratua izan da: | BMC Pediatr |
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| Egile nagusia: | |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BioMed Central
2019
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| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6438019/ https://ncbi.nlm.nih.gov/pubmed/30922274 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1432-8 |
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