ArticleMolecular vision2018
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in
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 13 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
13 citing papers in PubMed, 21 citations in OpenAlex.
- Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.Investigative ophthalmology & visual science · 2024Article
- A new association of PAX6 variation with Juvenile onset open angle glaucoma.Journal of human genetics · 2023Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.Eye (London, England) · 2022Article
- Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.Investigative ophthalmology & visual science · 2021Article
- Novel mutations of theMolecular vision · 2021Article
- Confirming and expanding the phenotypes ofMolecular vision · 2021Article
- Impaired DNA-binding affinity of novel PAX6 mutations.Scientific reports · 2020Article
- The Spectrum ofGenes · 2019Review
- CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.Human molecular genetics · 2019Article
- Clinical application of next-generation sequencing to the practice of neurology.The Lancet. Neurology · 2019Review
- Increased prevalence of parent ratings of ADHD symptoms among children with bilateral congenital cataracts.International journal of ophthalmology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Purpose: To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus. Methods: Ophthalmic examination was performed in 27 individuals from the same admixed South African family. DNA was sampled from either peripheral blood or buccal swabs in all 27 individuals, and whole genome sequencing was performed in six individuals. Sanger sequencing was used to validate the probable mutation in the remaining family members. Results: Twenty-seven family members with 19 affected individuals were included in the study. The predominant phenotype, with highly variable expression, was congenital cataract (14 individuals), posterior segment coloboma (17 individuals), and nystagmus (18 individuals). Other features present included high myopia, microcornea, and strabismus. An R208W mutation in Conclusions:
Indexed as
Identifiers
29930474PMC5993530W2940787730What 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.