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A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene.
Biomarker and diagnostic research for Jeune syndrome - GRK2-related has been reported in the published literature.
No clinical trials have been registered for Jeune syndrome - GRK2-related.
18 publications have been identified in PubMed for Jeune syndrome - GRK2-related. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 50% |
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 11:52 PM UTC
Common questions about Jeune syndrome - GRK2-related
4 |
22% |
Research summaries | 2 | 11% |
Disease patterns and progression | 2 | 11% |
Testing and diagnosis research | 1 | 6% |
Alyan D (2026). [PMID: 40797369](https://pubmed.ncbi.nlm.nih.gov/40797369/). *Ophthalmic genetics*. [Case Report / Case Series]
Vanden Eynde N (2026). [PMID: 41546657](https://pubmed.ncbi.nlm.nih.gov/41546657/). *Prenatal diagnosis*. [Review / Meta-Analysis]
Özer Özlü NG (2026). [PMID: 41382391](https://pubmed.ncbi.nlm.nih.gov/41382391/). *Clinical pediatrics*. [Case Report / Case Series]
Wang W (2025). [PMID: 40824053](https://pubmed.ncbi.nlm.nih.gov/40824053/). *Interdisciplinary cardiovascular and thoracic surgery*. [Case Report / Case Series]
Aksoy B (2025). [PMID: 39881615](https://pubmed.ncbi.nlm.nih.gov/39881615/). *Turkish journal of ophthalmology*. [Case Report / Case Series]
Xiong S (2025). [PMID: 39881416](https://pubmed.ncbi.nlm.nih.gov/39881416/). *Hereditas*. [Basic Science / Preclinical]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Progress in retinal and eye research*. [Review / Meta-Analysis]
Pattani N (2025). [PMID: 40250984](https://pubmed.ncbi.nlm.nih.gov/40250984/). *Journal of medical genetics*. [Epidemiology / Natural History]
Faviez C (2025). [PMID: 40561686](https://pubmed.ncbi.nlm.nih.gov/40561686/). *International journal of medical informatics*. [Diagnostic / Biomarker]
Beyer T (2025). [PMID: 39880085](https://pubmed.ncbi.nlm.nih.gov/39880085/). *Molecular & cellular proteomics : MCP*. [Basic Science / Preclinical]