ArticleCureus2024
Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder.
Article in Cureus, 2024. 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.
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hermansky-Pudlak syndrome (HPS) is an infrequent entity, with a multisystem involvement and autosomal recessive inheritance involving genetic mutations that lead to defective organelles of lysosomes. HPS is characterized by oculocutaneous albinism, platelet storage deficiency associated with prolonged bleeding, pulmonary fibrosis, and granulomatous colitis. In our case report, we describe a two-year-old boy with the clinical presentation of oculocutaneous albinism, generalized skin lesions, and recurrent bilateral epistaxis since the age of one year. He was diagnosed with HPS type 2 based on the clinical findings and supported by a genetic study that confirmed the loss of exon 23-24 of the
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Registered trials
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