ArticleClinical case reports2019
A patient with Phelan-McDermid syndrome and dilation of the great vessels.
Article in Clinical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Unilateral childhood-onset glaucoma associated with Phelan-McDermid syndrome.American journal of ophthalmology case reports · 2026Article
- Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.American journal of medical genetics. Part A · 2025Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Review
- Review
- Effects of Kynurenic Acid on the Rat Aorta Ischemia-Reperfusion Model: Pharmacological Characterization and Proteomic Profiling.Molecules (Basel, Switzerland) · 2021Article
- A patient with Phelan-McDermid syndrome and dilation of the great vessels.Clinical case reports · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a patient with Phelan-McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge.
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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.