ArticleMolecular vision2018
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 5 citations in OpenAlex.
- Article
- Cataract management in children: a review of the literature and current practice across five large UK centres.Eye (London, England) · 2020Review
- Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.Intractable & rare diseases research · 2020Article
- Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.European journal of ophthalmology · 2020Article
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 at 3 institutions in 1 country.
Funding
Abstract
Purpose: To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants. Methods: Clinical examination and phenotyping, segregation, and functional analysis were performed for the two studied pedigrees. Results: A novel Conclusions: The results highlight the importance of early genetic diagnosis in infants with congenital cataract and show that mutations in the
Indexed as
Identifiers
30713423PMC6334980W2907961301What 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.