ArticleEJHaem2025
Novel Nonsense Mutation in
Article in EJHaem, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Novel Nonsense Mutation inEJHaem · 2025Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early-onset life-threatening infections. SGD2 is caused by autosomal recessive mutations in the Methods: Prenatal screening in our patient revealed a novel homozygous nonsense mutation in Results: Postnatally, she suffered from infections, pneumonia, cholestasis, mucocutaneous bleeding, and dysmorphic features, including clubfoot. Hematological findings included neutropenia, monocytosis, myelodysplasia, and thrombocytopenia. In contrast to previous cases, this patient presented with dysplasia of all myeloid lineages, including hypogranular neutrophils, pseudo Pelger-Huët, macrothrombocytes, bilobular monocytes, and dysplastic erythroblasts. Due to the severity of her condition, she passed away after 1.5 months. Conclusion: This report illustrates the role of SMARCD2 in hematopoiesis and provides an overview of all previously described SGD2 patients. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.
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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.