Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
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| Title: | Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. |
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| Authors: | Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Gupta P; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Price C; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Han J; Department of Ophthalmology, Gangnam Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Republic of Korea., Navarro J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Place EM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Mukai S; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Zanlonghi X; Centre de compétence maladies rares, Service d'Ophtalmologie, CHU Rennes, Rennes, France., Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS, CIC 1423, Paris, France.; Vision Institute, University of Pittsburgh Medical Center and School of Medicine, Pittsburgh, PA, USA., DiTroia S; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., O'Heir E; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Duncan JL; Department of Ophthalmology, University of California, San Francisco, CA, USA., Pierce EA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France. isabelle.audo@inserm.fr.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS, CIC 1423, Paris, France. isabelle.audo@inserm.fr., Huckfeldt RM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. kinga_bujakowska@meei.harvard.edu. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2024 Nov 08; Vol. 9 (1), pp. 58. Date of Electronic Publication: 2024 Nov 08. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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