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CUGC for posterior polymorphous corneal dystrophy (PPCD).
Davidson, Alice E; Hafford-Tear, Nathaniel J; Dudakova, Lubica; Sadan, Amanda N; Pontikos, Nikolas; Hardcastle, Alison J; Tuft, Stephen J; Liskova, Petra.
Afiliação
  • Davidson AE; UCL Institute of Ophthalmology, London, EC1V 9EL, UK. alice.davidson@ucl.ac.uk.
  • Hafford-Tear NJ; UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
  • Dudakova L; First Faculty of Medicine, Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
  • Sadan AN; UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
  • Pontikos N; UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
  • Hardcastle AJ; UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
  • Tuft SJ; UCL Institute of Ophthalmology, London, EC1V 9EL, UK.
  • Liskova P; Moorfields Eye Hospital, London, EC1V 2PD, UK.
Eur J Hum Genet ; 28(1): 126-131, 2020 01.
Article em En | MEDLINE | ID: mdl-31201376
ABSTRACT
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Distrofias Hereditárias da Córnea Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Distrofias Hereditárias da Córnea Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido