A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.

Hershkovitz, Tova; Kurolap, Alina; Tal, Galit; Paperna, Tamar; Mory, Adi; Staples, Jeffrey; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Dumin, Elena; Saada, Ann; Mandel, Hanna; Baris Feldman, Hagit

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.

Hershkovitz, Tova; Kurolap, Alina; Tal, Galit; Paperna, Tamar; Mory, Adi; Staples, Jeffrey; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Dumin, Elena; Saada, Ann; Mandel, Hanna; Baris Feldman, Hagit.

Affiliation

Hershkovitz T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Kurolap A; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Tal G; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Paperna T; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Mory A; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Staples J; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Brigatti KW; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Gonzaga-Jauregui C; Clinic for Special Children, Strasburg, PA, USA.
Saada A; Regeneron Genetics Center, Tarrytown, NY, USA.
Mandel H; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Baris Feldman H; Department of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel.