Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population

Autor: Campbell, Teresa, Slone, Jesse, Metzger, Hallie, Liu, Wensheng, Sacharow, Stephanie, Yang, Amy, Moosajee, Mariya, La Morgia, Chiara, Carelli, Valerio, Palombo, Flavia, Lines, Matthew A., Innes, A. Micheil, Levy, Rebecca J., Neilson, Derek, Longo, Nicola, Huang, Taosheng

Publikováno v: In Genetics in Medicine Open 2024 2

Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.

Autor: Campbell T; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Slone J; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Metzger H; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Liu W; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Harvard Medical School, Boston, MA., Yang A; Oregon Health and Science University, Portland, OR., Moosajee M; Institute of Ophthalmology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, BO, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, BO, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, BO, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, BO, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, BO, Italy., Lines MA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Levy RJ; Department of Neurology, Stanford University, Stanford, CA., Neilson D; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ., Longo N; Department of Pediatrics, University of Utah, Salt Lake City, UT., Huang T; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY.

Publikováno v: Genetics in medicine open [Genet Med Open] 2023 Nov 11; Vol. 2, pp. 100841. Date of Electronic Publication: 2023 Nov 11 (Print Publication: 2024).