Case Report: novel GUCA1B and ABHD12 mutations in retinitis pigmentosa sine pigmento: expanding the genotypic spectrum through multimodal phenotyping.
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| Title: | Case Report: novel GUCA1B and ABHD12 mutations in retinitis pigmentosa sine pigmento: expanding the genotypic spectrum through multimodal phenotyping. |
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| Authors: | Wu Y; Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China., Wang H; Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China., Zhang J; Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China., Wang X; Department of Operating Theatre, Tianjin Medical University General Hospital, Tianjin, China., Wu X; Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China., Mao C; Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China., Sun Y; Department of Ophthalmology, Tianjin Medical University General Hospital, Konggang Hospital, Tianjin, China., Zhou W; Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China. |
| Source: | Frontiers in medicine [Front Med (Lausanne)] 2025 Oct 20; Vol. 12, pp. 1622343. Date of Electronic Publication: 2025 Oct 20 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2296-858X |
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| DOI: | 10.3389/fmed.2025.1622343 |
