ArticleJournal of clinical research in pediatric endocrinology2020
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the
Article in Journal of clinical research in pediatric endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.Endocrine journal · 2026Review
- Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE SyndromeJournal of clinical research in pediatric endocrinology · 2026Article
- Case Report: Unveiling the enigma: a rare male neonatal case of MIRAGE syndrome with female external genital presentation and literature review.Frontiers in pediatrics · 2026Article
- A De Novo Mutation (c.2423A>G) inHuman mutation · 2026Article
- Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development.Intractable & rare diseases research · 2025Review
- Review
- Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature.Children (Basel, Switzerland) · 2024Review
- Emerging phenotypes linked to variants inFrontiers in endocrinology · 2022Article
- Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.The Journal of clinical investigation · 2021Article
- Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenicClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
- Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.Best practice & research. Clinical haematology · 2020Review
- MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in theHuman genome variation · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Here we present a case of MIRAGE syndrome due to a heterozygous missense variant (c.2920G>A; p.E974K) mutation in the sterile alpha motif domain-containing protein-9
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.