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...

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Dades bibliogràfiques
Publicat a:BMC Nephrol
Autors principals: Ishiwa, Sho, Kamei, Koichi, Tanase-Nakao, Kanako, Shibata, Shinsuke, Matsunami, Kunihiro, Takeuchi, Ichiro, Sato, Mai, Ishikura, Kenji, Narumi, Satoshi
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7424677/
https://ncbi.nlm.nih.gov/pubmed/32787808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-02011-4
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