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Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome

Early-onset diabetes, liver dysfunction, growth retardation, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (WRS). Eukaryotic translation initiation factor 2α kinase (EIF2AK3) is the only known gene, which is respon...

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Detalhes bibliográficos
Main Authors: Behnam, Babak, Shakiba, Marjan, Ahani, Ali, Razzaghy Azar, Maryam
Formato: Artigo
Idioma:Inglês
Publicado em: Kowsar 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759778/
https://ncbi.nlm.nih.gov/pubmed/24032041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5812/hepatmon.10124
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