ArticleCase reports in medicine2025
A 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.
Article in Case reports in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Bothrops jararaca snake venom: A reappraisal of its coagulant activity in humans, mice, and rats.PLoS neglected tropical diseases · 2026Article
- Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants inGenes · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 29-year-old Moroccan with oculocutaneous albinism presented with a history of exertional dyspnea, recurrent epistaxis, and bacterial infections, raising suspicion of Hermansky-Pudlak syndrome (HPS). Further evaluation revealed neutropenia, impaired platelet function, pulmonary fibrosis, and mild pulmonary hypertension. An ECG identified ventricular pre-excitation with a postero-septal right accessory pathway, consistent with Wolff-Parkinson-White (WPW) syndrome. Genetic testing confirmed a homozygous mutation in the
Identifiers
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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.