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Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Schwarz, Martin; Ryba, Lukás; Krepelová, Anna; Moslerová, Veronika; Zelinová, Michaela; Turnovec, Marek; Martinková, Júlia; Kratochvílová, Lenka; Drahanský, Martin; Macek, Milan; Havlovicová, Markéta.
Affiliation
  • Schwarz M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Krepelová A; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Moslerová V; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Zelinová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Turnovec M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Martinková J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Kratochvílová L; Department of Stomatology, Motol University Hospital, Prague, Czech Republic.
  • Drahanský M; Department of Intelligent Systems, Faculty of Information Technology, Brno University of Technology, Brno, Czech Republic.
  • Macek M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Havlovicová M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Am J Med Genet A ; 188(4): 1083-1087, 2022 04.
Article in En | MEDLINE | ID: mdl-34907639
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fibromatosis, Gingival / Hypertrichosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Czech Republic Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fibromatosis, Gingival / Hypertrichosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Czech Republic Country of publication: United States