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Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3). We report 4 children...
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Gepubliceerd in: | Orphanet J Rare Dis |
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Hoofdauteurs: | , , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
BioMed Central
2016
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Onderwerpen: | |
Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4748609/ https://ncbi.nlm.nih.gov/pubmed/26860746 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0397-z |
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