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Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599817/ http://dx.doi.org/10.1186/1546-0096-13-S1-P141 |
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author | Girschick, H Wolf, C Morbach, H Hertzberg, C Lee-Kirsch, MA |
author_facet | Girschick, H Wolf, C Morbach, H Hertzberg, C Lee-Kirsch, MA |
author_sort | Girschick, H |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-4599817 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-45998172015-10-13 Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene Girschick, H Wolf, C Morbach, H Hertzberg, C Lee-Kirsch, MA Pediatr Rheumatol Online J Poster Presentation BioMed Central 2015-09-28 /pmc/articles/PMC4599817/ http://dx.doi.org/10.1186/1546-0096-13-S1-P141 Text en Copyright © 2015 Girschick et al. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Poster Presentation Girschick, H Wolf, C Morbach, H Hertzberg, C Lee-Kirsch, MA Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene |
title | Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene |
title_full | Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene |
title_fullStr | Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene |
title_full_unstemmed | Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene |
title_short | Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene |
title_sort | severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the acp5 gene |
topic | Poster Presentation |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599817/ http://dx.doi.org/10.1186/1546-0096-13-S1-P141 |
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