ArticleClinical case reports2021
Pierpont syndrome-Report of a new patient.
Article in Clinical case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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
5 citing papers in PubMed, 9 citations in OpenAlex.
- The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.Orphanet journal of rare diseases · 2024Article
- An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.Human molecular genetics · 2022Article
- Rare variant of TBL1XR1 in West syndrome: A case report.Molecular genetics & genomic medicine · 2022Review
- Pierpont syndrome-Report of a new patient.Clinical case reports · 2021Article
- Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.Journal of investigative medicine high impact case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a 6-year-old girl with Pierpont Syndrome who was diagnosed using the whole-exome sequencing technique. In addition to commonly recognized traits, our patient had scoliosis, a feature reported only in one other occasion.
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.