ArticleCureus2025
Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Connective tissue disorders present to the emergency department with a broad spectrum of symptoms and signs, often leading to delayed diagnosis and missed opportunities to prevent fatal complications later in life. We report a case of a 54-year-old woman with an extensive history of multiple repeated medical evaluations for nonspecific complaints, including hypermobility, poor wound healing, and impaired balance, without a definitive diagnosis for six years. Eventually, the patient underwent whole exome sequencing (WES). WES identified a heterozygous variant in the ataxia telangiectasia and Rad3-related protein (ATR) gene, NM_001184.4(ATR):c.1464G>T (p.Glu488Asp), previously classified as a variant of uncertain significance based on only one prior report. The present case may represent a novel manifestation of ATR-related disorders, suggesting considerable overlap with hereditary connective tissue disorders. Rapid bedside assessment for connective tissue abnormalities in patients presenting with nonspecific symptom complexes could facilitate earlier identification of appropriate candidates for genetic testing.
Indexed as
Identifiers
What OpenQuestion holds
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.