A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report

Abstract 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...

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Bibliographic Details
Main Authors: Sho Ishiwa, Koichi Kamei, Kanako Tanase-Nakao, Shinsuke Shibata, Kunihiro Matsunami, Ichiro Takeuchi, Mai Sato, Kenji Ishikura, Satoshi Narumi
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Nephrology
Subjects:
MIRAGE syndrome
SAMD9
Steroid-resistant nephrotic syndrome (SRNS)
Focal segmental glomerulosclerosis (FSGS)
Endocytosis
Online Access:http://link.springer.com/article/10.1186/s12882-020-02011-4

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http://link.springer.com/article/10.1186/s12882-020-02011-4

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