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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

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Title: Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Authors: Mussa A; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Iacoviello M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Carli D; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, Torino, Italy., Ranieri C; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Pantaleo A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Buonuomo PS; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Bagnulo R; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Ferrero GB; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Maitz S; Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy., Loconte DC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Turchiano A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piglionica M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., De Luisi A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Susca FC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Bukvic N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Forleo C; Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Selicorni A; Pediatric Department, ASST Lariana, Monza, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Cappuccio G; Department of Translational Medicine, Federico II University Hospital, Napoli, Italy., Garavelli L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Novelli C; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy., Memo L; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Morando C; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Accadia M; Medical Genetics Unit, Hospital 'Cardinale G. Panico', Tricase, Italy., Capurso M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piscopo C; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy., Di Giacomo MC; Unit of Pathology and Medical Genetics, AOR Ospedale 'San Carlo', Potenza, Italy., Saletti V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Spinelli AM; Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy., Lastella P; Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy., Tenconi R; Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy., Dvorakova V; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Irvine AD; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Resta N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy nicoletta.resta@uniba.it.
Source: Journal of medical genetics [J Med Genet] 2023 Feb; Vol. 60 (2), pp. 163-173. Date of Electronic Publication: 2022 Mar 07.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
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  Data: <searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Leoni+C%22">Leoni C</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.<br /><searchLink fieldCode="AU" term="%22Iacoviello+M%22">Iacoviello M</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Ranieri+C%22">Ranieri C</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Pantaleo+A%22">Pantaleo A</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Buonuomo+PS%22">Buonuomo PS</searchLink>; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.<br /><searchLink fieldCode="AU" term="%22Bagnulo+R%22">Bagnulo R</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Ferrero+GB%22">Ferrero GB</searchLink>; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Bartuli+A%22">Bartuli A</searchLink>; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.<br /><searchLink fieldCode="AU" term="%22Melis+D%22">Melis D</searchLink>; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy.<br /><searchLink fieldCode="AU" term="%22Maitz+S%22">Maitz S</searchLink>; Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy.<br /><searchLink fieldCode="AU" term="%22Loconte+DC%22">Loconte DC</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Turchiano+A%22">Turchiano A</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Piglionica+M%22">Piglionica M</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22De+Luisi+A%22">De Luisi A</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Susca+FC%22">Susca FC</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Bukvic+N%22">Bukvic N</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Forleo+C%22">Forleo C</searchLink>; Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Selicorni+A%22">Selicorni A</searchLink>; Pediatric Department, ASST Lariana, Monza, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.<br /><searchLink fieldCode="AU" term="%22Onesimo+R%22">Onesimo R</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.<br /><searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; Department of Translational Medicine, Federico II University Hospital, Napoli, Italy.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+C%22">Novelli C</searchLink>; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Memo+L%22">Memo L</searchLink>; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy.<br /><searchLink fieldCode="AU" term="%22Morando+C%22">Morando C</searchLink>; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy.<br /><searchLink fieldCode="AU" term="%22Della+Monica+M%22">Della Monica M</searchLink>; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy.<br /><searchLink fieldCode="AU" term="%22Accadia+M%22">Accadia M</searchLink>; Medical Genetics Unit, Hospital 'Cardinale G. Panico', Tricase, Italy.<br /><searchLink fieldCode="AU" term="%22Capurso+M%22">Capurso M</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Piscopo+C%22">Piscopo C</searchLink>; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy.<br /><searchLink fieldCode="AU" term="%22Cereda+A%22">Cereda A</searchLink>; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Giacomo+MC%22">Di Giacomo MC</searchLink>; Unit of Pathology and Medical Genetics, AOR Ospedale 'San Carlo', Potenza, Italy.<br /><searchLink fieldCode="AU" term="%22Saletti+V%22">Saletti V</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Spinelli+AM%22">Spinelli AM</searchLink>; Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy.<br /><searchLink fieldCode="AU" term="%22Lastella+P%22">Lastella P</searchLink>; Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Tenconi+R%22">Tenconi R</searchLink>; Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Dvorakova+V%22">Dvorakova V</searchLink>; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Irvine+AD%22">Irvine AD</searchLink>; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Resta+N%22">Resta N</searchLink>; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy nicoletta.resta@uniba.it.
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