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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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Bibliografiske detaljer
Udgivet i:BMC Pediatr
Hovedforfatter: Fatani, Tarah H.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Online adgang: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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