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EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report

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 dysfunction. | EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report