Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
Article in Orphanet Journal of Rare Diseases (April 2024)
The most recent citing publications are shown below. View all 11 publications that cite this research output on Dimensions.
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes
Article in Frontiers in Endocrinology (May 2023)
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene
Article in Hormones (October 2022)