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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Dias, R. P., Buchanan, C. R., Thomas, N., Lim, S., Solanki, G., Connor, SEJ, Barrett, T. G., Kapoor, R. R.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha: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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