ArticleIntractable & rare diseases research2024
Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene.
Article in Intractable & rare diseases research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 3 citations in OpenAlex.
- The spectrum of bleeding in Wiskott-Aldrich syndrome: a systematic review and meta-analysis of incidence and mortality.Frontiers in immunology · 2026Pooled it
- Neurological manifestations in Wiskott-Aldrich syndrome: a systematic review.Frontiers in immunology · 2026Pooled it
- The SynMall resource for characterizing the functional impact of synonymous variation.Genome research · 2026Article
- Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.BMC immunology · 2025Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder. Mutations in the WAS gene are considered to be the primary cause of WAS. In this work, we report a boy who presented with intracranial hemorrhage (ICH) as an initial symptom and detects a novel pathogenic synonymous mutation in his
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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.