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Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities; autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding olig...

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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Whyte, Michael P., Lim, Emilina, McAlister, William H., Gottesman, Gary S., Trinh, Lien, Veis, Deborah J., Bijanki, Vinieth N., Boden, Matthew G., Nenninger, Angela, Mumm, Steven, Buchbinder, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6636828/
https://ncbi.nlm.nih.gov/pubmed/29933504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3532
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