ArticleFrontiers in endocrinology2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually
Article in Frontiers in endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 19 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
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- Case Report: Growth hormone deficiency and response to treatment in MIRAGE syndrome: expanding the endocrine phenotype.Frontiers in 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
- 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
- Monogenic Adult-Onset Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Reversion Mosaicism in Primary Immunodeficiency Diseases.Frontiers in immunology · 2021Review
- MIRAGE Syndrome Caused by aFrontiers in 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
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in theHuman genome variation · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
What OpenQuestion holds
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.