Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.
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| Title: | Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome. |
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| Authors: | Li JM; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Tavares E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Duncan JL; Department of Ophthalmology, University of California, San Francisco, California, USA., Vincent A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Héon E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2025 Aug; Vol. 46 (4), pp. 406-412. Date of Electronic Publication: 2024 Dec 01. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1744-5094 |
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| DOI: | 10.1080/13816810.2024.2434039 |
