A carregar...
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...
Na minha lista:
| Publicado no: | Pediatr Rheumatol Online J |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4562156/ https://ncbi.nlm.nih.gov/pubmed/26346816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-015-0035-7 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|