ArticleFrontiers in genetics2025
Novel variant in
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Splenial corpus callosum lesions in Boucher-Neuhäuser syndrome: a case series and comprehensive literature review with exploratory analysis of disease duration.Neuroradiology · 2026Article
- Downbeat Nystagmus and Slow Orthostatic Tremor: Expanding the Clinical Spectrum of PNPLA6-Related Disorders.Journal of movement disorders · 2026Article
- Fertility outcomes and management of long-term pubertal testosterone replacement sequelae in Oliver-McFarlane syndrome: a case report and literature review.AME case reports · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Oliver-McFarlane syndrome (OMCS) is a rare autosomal recessive disorder characterized by trichomegaly, severe chorioretinal dystrophy, and multiple pituitary hormone deficiencies. Its marked genetic and clinical heterogeneity presents significant challenges for definitive diagnosis. Methods: In this study, we initially evaluated a proband clinically diagnosed with OMCS, followed by genetic analysis using whole-exome sequencing (WES). Candidate pathogenic variants were validated via Sanger sequencing and familial co-segregation analysis. Results: WES identified compound heterozygous variants in the Discussion: Our findings expand the pathogenic variant spectrum and clinical phenotypic landscape of OMCS. Given the early onset and progressive nature of retinal involvement, we propose that early intervention targeting the preservation of retinal pigment epithelium (RPE) and photoreceptor function may be clinically beneficial.
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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.