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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.
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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  Data: A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene.
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  Data: <searchLink fieldCode="AU" term="%22Veleva-Krasteva+N%22">Veleva-Krasteva N</searchLink>; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Genov+K%22">Genov K</searchLink>; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Kamenarova+K%22">Kamenarova K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kaneva+Y%22">Kaneva Y</searchLink>; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Mihova+K%22">Mihova K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kostova+S%22">Kostova S</searchLink>; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Kaneva+R%22">Kaneva R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Oscar+A%22">Oscar A</searchLink>; Department of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Eye Clinic, University Hospital 'Alexandrovska', 1431 Sofia, Bulgaria.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Apr 21; Vol. 17 (4). <i>Date of Electronic Publication: </i>2026 Apr 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
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        Text: English
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              Text: 2026 Apr 21
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