ReviewFrontiers in endocrinology2023
Case report: A case of Culler-Jones syndrome caused by a novel mutation of
Review in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed.
- Post-translational modification of proteins in the human testis development pathway.Human reproduction update · 2026Review
- Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.Frontiers in genetics · 2026Article
- [Culler-Jones syndrome polymorphism].Problemy endokrinologii · 2025Article
- A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.BMC pediatrics · 2025Article
- De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.Molecular genetics & genomic medicine · 2025Article
- Case Report: A case of Culler-Jones syndrome caused byFrontiers in pediatrics · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. With the aid of high-throughput sequencing technology, the
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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.