Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on...

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Detalles Bibliográficos
Autores principales: Girschick, Hermann, Wolf, Christine, Morbach, Henner, Hertzberg, Christoph, Lee-Kirsch, Min Ae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562156/
https://www.ncbi.nlm.nih.gov/pubmed/26346816
http://dx.doi.org/10.1186/s12969-015-0035-7

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