Schimke immuno-osseous dysplasia. A case report in Colombia

BACKGROUND: Schimke immune-osseous dysplasia (SIOD) is an ultra-rare multisystemic, monogenic, and autosomal recessive inherited disease caused by biallelic mutations in the SMARCAL1 gene. Approximately 100 cases have been reported worldwide. The disease is characterized by skeletal, renal, and immu...

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Detalles Bibliográficos
Autores principales: Orozco, Rafael Adrián Pacheco, Padilla-Guzmán, Alejandro, Forero-Delgadillo, Jessica María, Jiménez, Vanessa Amparo Ochoa, Pachajoa, Harry, Parra, Nancy Janeth Vargas, Restrepo, Jaime M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472290/
https://www.ncbi.nlm.nih.gov/pubmed/37662493
http://dx.doi.org/10.1016/j.ymgmr.2023.100995

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