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http://hdl.handle.net/20.500.12188/10994| Наслов: | A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia | Authors: | Violeta Anastasovska Mirjana Kocova Nikolina Zdraveska Maja Stojiljkovic Anita Skakic Kristel Klaassen Sonja Pavlovic |
Issue Date: | 14-мар-2021 | Publisher: | Springer | Journal: | Endocrine | Abstract: | Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis with a broad spectrum of clinical presentations, ranging from the severe classical salt-wasting (SW) and simple-virilizing (SV) form, to the mild nonclassical form. A large variety of CYP21A2 genotypes in correlation with phenotype have been described. | URI: | http://hdl.handle.net/20.500.12188/10994 | DOI: | 10.1007/s12020-021-02680-7 |
| Appears in Collections: | Faculty of Medicine: Journal Articles |
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