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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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Bibliografische gegevens
Gepubliceerd in:Orphanet J Rare Dis
Hoofdauteurs: Dias, R. P., Buchanan, C. R., Thomas, N., Lim, S., Solanki, G., Connor, SEJ, Barrett, T. G., Kapoor, R. R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2016
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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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