Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

PURPOSE: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. METHODS: We compiled clinical, genetic and se...

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Veröffentlicht in:J Clin Immunol
Hauptverfasser: Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2016
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4792361/
https://ncbi.nlm.nih.gov/pubmed/26951490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-016-0252-y
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