Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

IntroductionMIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Herein, we report the case of a girl with MIRAGE syndrome who presented with adrenal insufficiency and chronic diarrhea.Case presenta...

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Bibliographic Details
Main Authors: Anna Go, Beom Hee Lee, Jin-Ho Choi, Jiyoon Jeong, Euiseok Jung, Byong Sop Lee
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Endocrinology
Subjects:
MIRAGE syndrome
adrenal insufficiency (AI)
enteropathy
hypoplasia
SAMD9
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1242387/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1242387/full

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