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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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Publicado no: | Orphanet J Rare Dis |
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Main Authors: | , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2016
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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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