| http://purl.uniprot.org/citations/31505704 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31505704 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. The study refers to CAH patients of Greek-Cypriot ancestry between years 2007 and 2018. One hundred and twenty patients with various degrees of CAH were categorized and genotyped. The patients were categorized in 4 mutation groups based on their clinical and biochemical findings. The majority of patients (85.0%) belonged to the non-classic (NC)-CAH form and the disorder was more often diagnosed in females (71.7%). The most severe classic salt-wasting (SW) form was identified in 11 neonates (9.2%). Seven (5.8%) children were also identified with the simple virilizing (SV) form and a median presentation age of 5 years [interquartile range (IQR) 3.2-6.5]. In the 240 nonrelated alleles, the most frequent mutation was p.Val281Leu (60.0%) followed by c.655 A/C>G (IVS2-13A/C>G) (8.8%), p.Pro453Ser (5.8%), DelEx1-3 (4.6%), p.Val304Met (4.6%), and p.Gln318stop (4.2%). Other less frequent mutations including rare deletions were also identified. Following our recent report that the true carrier frequency of CYP21A2 in Greek-Cypriots is 1:10, this study reports that the CAH prevalence is predicted around 1.7 cases per 10 000 people. Therefore, the up-to-date 120 CAH patients identified by our group make only the 6.9% of the ones estimated (approximately 1750) to exist in the Greek Cypriot population. The compiled data from a coherent population such as the Greek-Cypriot could be valuable for the antenatal diagnosis, management and genetic counselling of the existing and prospect families with CAH."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.org/dc/terms/identifier | "doi:10.1055/a-0957-3297"xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Fanis P."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Tanteles G.A."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Phylactou L.A."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Skordis N."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Stylianou C."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Kyriakou A."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Kyriakides T.C."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Neocleous V."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Toumba M."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Iasonides M."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Nicolaou S."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Picolos M."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/author | "Andreou E."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/name | "Horm Metab Res"xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/pages | "586-594"xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/title | "The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis."xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://purl.uniprot.org/core/volume | "51"xsd:string |
| http://purl.uniprot.org/citations/31505704 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31505704 |
| http://purl.uniprot.org/citations/31505704 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/31505704 |
| http://purl.uniprot.org/uniprot/#_A0A023J7R6-mappedCitation-31505704 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31505704 |
| http://purl.uniprot.org/uniprot/#_A0A2U7NZY9-mappedCitation-31505704 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31505704 |