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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Orphanet J Rare Dis
Egile Nagusiak: Dias, R. P., Buchanan, C. R., Thomas, N., Lim, S., Solanki, G., Connor, SEJ, Barrett, T. G., Kapoor, R. R.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Letter to the Editor
Sarrera elektronikoa: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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