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Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Dudakova, Lubica; Stranecky, Viktor; Piherova, Lenka; Palecek, Tomas; Pontikos, Nikolas; Kmoch, Stanislav; Skalicka, Pavlina; Vaneckova, Manuela; Davidson, Alice E; Liskova, Petra.
Affiliation
  • Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
  • Stranecky V; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
  • Piherova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
  • Palecek T; Second Department of Medicine-Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
  • Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Kmoch S; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
  • Skalicka P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
  • Vaneckova M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
  • Davidson AE; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Katerinska 30, 128 08 Prague, Czech Republic.
  • Liskova P; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Genes (Basel) ; 12(5)2021 04 30.
Article in En | MEDLINE | ID: mdl-33946386
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Full text: 1 Database: MEDLINE Main subject: Corneal Dystrophies, Hereditary / Penetrance / Zinc Finger E-box-Binding Homeobox 1 / Loss of Function Mutation Type of study: Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2021 Type: Article Affiliation country: Czech Republic
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Full text: 1 Database: MEDLINE Main subject: Corneal Dystrophies, Hereditary / Penetrance / Zinc Finger E-box-Binding Homeobox 1 / Loss of Function Mutation Type of study: Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Genes (Basel) Year: 2021 Type: Article Affiliation country: Czech Republic