EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Autor: Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany. ulrike.hueffmeier@uk-erlangen.de., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Reuter MS; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, MA, USA., Ahmed SA; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA., Rawson KL; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA., Barr E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Li H; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Bruel AL; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France., Faivre L; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Centre de Génétique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» et FHU TRANSLAD, Hôpital D'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France., Tran Mau-Them F; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France., Botti C; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA., Brooks S; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA., Burns K; Sanford Health, Sioux Falls, SD, USA., Ward DI; Sanford Health, Sioux Falls, SD, USA., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Martinez-Agosto JA; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Nelson SF; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA., Zacher P; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Epilepsy Center Kleinwachau, Radeberg, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., McGaughran J; Genetic Health Queensland, Royal Brisbane and Woman's Hospital, Brisbane, Australia.; School of Medicine, The University of Queensland, St Lucia, Brisbane, Australia., Kohlhase J; Synlab Human Genetics Freiburg, Freiburg, Germany., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Moran E; Clinical Genetics, Hassenfeld Children's Hospital at NYU Langone, NYU Langone, Orthopedic Hospital, New York, NY, USA., Pappas J; Division of Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA., Raas-Rothschild A; Sackler School of Medicine at Tel Aviv University, Tel Aviv, Israel.; Institute of Rare Diseases, Edmond & Lily Safra Children Hospital, Tel Hashomer, Israel., Sacoto MJG; GeneDx, Gaithersburg, MD, 20877, USA., Henderson LB; GeneDx, Gaithersburg, MD, 20877, USA., Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA., Mullegama SV; GeneDx, Gaithersburg, MD, 20877, USA., Zghal Elloumi H; GeneDx, Gaithersburg, MD, 20877, USA., Reich A; GeneDx, Gaithersburg, MD, 20877, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Wahl E; Division of Genetics, UBMD Pediatrics, Buffalo, NY, USA., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 18; Vol. 16 (1), pp. 136. Date of Electronic Publication: 2021 Mar 18.