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Natural history of KBG syndrome in a large European cohort.
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukás; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Atallah, Isis; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore.
Affiliation
  • Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Bruno LP; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
  • Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Resciniti S; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Carullo M; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Rahikkala E; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
  • Jouret G; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Menke LA; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Lederer D; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Vrielynck P; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Ryba L; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Brunetti-Pierri N; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Lasa-Aranzasti A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
  • Cueto-González AM; Medical Genetics, University of Siena, Siena 53100, Italy.
  • Trujillano L; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
  • Valenzuela I; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland.
  • Tizzano EF; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg.
  • Spinelli AM; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands.
  • Bruno I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.
  • Currò A; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium.
  • Stanzial F; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.
  • Benedicenti F; Department of Translational Medicine, University of Naples "Federico II", Naples 80125, Italy.
  • Lopergolo D; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.
  • Santorelli FM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.
  • Aristidou C; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.
  • Tanteles GA; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.
  • Maystadt I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.
  • Tkemaladze T; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy.
  • Reimand T; Institute for Maternal and Child Health, Trieste 34100, Italy.
  • Lokke H; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.
  • Õunap K; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.
  • Haanpää MK; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.
  • Holubová A; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.
  • Zoubková V; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.
  • Schwarz M; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.
  • Zordania R; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.
  • Muru K; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.
  • Roht L; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia.
  • Tihveräinen A; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.
  • Teek R; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Thomson U; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.
  • Atallah I; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Superti-Furga A; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.
  • Buoni S; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Canitano R; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland.
  • Scandurra V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.
  • Rossetti A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.
  • Grosso S; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.
Hum Mol Genet ; 31(24): 4131-4142, 2022 12 16.
Article in En | MEDLINE | ID: mdl-35861666
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Full text: 1 Database: MEDLINE Main subject: Tooth Abnormalities / Abnormalities, Multiple / Bone Diseases, Developmental / Dwarfism / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Year: 2022 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Tooth Abnormalities / Abnormalities, Multiple / Bone Diseases, Developmental / Dwarfism / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Year: 2022 Type: Article