IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Autor: Lopergolo D; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Privitera F; Medical Genetics, University of Siena, Siena, Italy., Castello G; Medical Genetics, University of Siena, Siena, Italy., Lo Rizzo C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Ariani F; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Currò A; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Lamacchia V; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Vaghi E; MAS Clinica Generale, Istituto Oncologico della Svizzera Italiana, Ospedale Regionale di Lugano, Italiano, Lugano, Switzerland., Ferrarini A; Chief Medical Genetics EOC, CSSI- Ospedale Regionale di Lugano, Italiano, Lugano, Switzerland., Baltodano GM; Departamento de Genética, Hospital Infantil Manuel de Jesús Rivera, Managua, Nicaragua., Lederer D; Department of Clinical Genetics, Centre for Human Genetics, Gosselies, Belgium., Van Maldergem L; Center of Human Genetics, University of Franche-Comté, Besançon, France., Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca, Barcelona, Spain.; U-703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., Pineda M; Department of Neuropediatria, Fundación Sant Joan de Déu, Barcelona, Spain., Fons-Estupina MDC; U-703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Fetal-Neonatal Neurology Unit and Early Onset Epilepsy, Hospital Sant Joan de Déu, Institut de Recerca, Barcelona, Spain., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Kumps C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Mueller S; Pediatric Institute of Southern Switzerland, Ente Ospedaliero Cantonale, Bellinzona, Switzerland., Ramelli GP; Pediatric Institute of Southern Switzerland, Ente Ospedaliero Cantonale, Bellinzona, Switzerland., Armstrong J; Genetics Department, Hospital Sant Joan de Deu, Institut Pediàtric de Recerca and CIBERER, Barcelona, Spain., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mari F; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Publikováno v: Clinical genetics [Clin Genet] 2021 Mar; Vol. 99 (3), pp. 462-474. Date of Electronic Publication: 2021 Jan 09.