A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene.
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| Title: | A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene. |
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| Authors: | Veleva-Krasteva N; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria., Genov K; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria., Kamenarova K; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria., Kaneva Y; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria., Mihova K; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria., Kostova S; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria., Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Laboratory of Genomic Diagnostics, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria., Oscar A; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria. |
| Source: | Genes [Genes (Basel)] 2026 Apr 21; Vol. 17 (4). Date of Electronic Publication: 2026 Apr 21. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes17040494 |
