Article
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Orphanet journal of rare diseases - 2 Oct 2021
Yiallouros Panayiotis K, Matthaiou Andreas Μ, Anagnostopoulou Pinelopi, Kouis Panayiotis, Libik Malgorzata, Adamidi Tonia, Eleftheriou Adonis, Demetriou Artemios, Ioannou Phivos, Tanteles George A, Costi Constantina, Fanis Pavlos, Macek Milan, Neocleous Vassos, Phylactou Leonidas A
Abstract excerpt
BACKGROUND: Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the systematic recording of patients' data. In this study, we aim to present data on the epidemiological, genotypic and phenotypic features of CF patients in the country from the most recent data...
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