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A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
BACKGROUND: MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-function mutation in the SAMD9 gene. We encountered a girl wi...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424677/ https://www.ncbi.nlm.nih.gov/pubmed/32787808 http://dx.doi.org/10.1186/s12882-020-02011-4 |