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Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and immune dysregulation. Spasticity, developmental dela...

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Detalles Bibliográficos
Autores principales: Kara, Bulent, Ekinci, Zelal, Sahin, Sezgin, Gungor, Mesut, Gunes, Ayfer Sakarya, Ozturk, Kubra, Adrovic, Amra, Cefle, Ayse, Inanç, Murat, Gul, Ahmet, Kasapcopur, Ozgur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369505/
https://www.ncbi.nlm.nih.gov/pubmed/32691099
http://dx.doi.org/10.1007/s00296-020-04653-x