Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/10994| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Violeta Anastasovska | en_US |
| dc.contributor.author | Mirjana Kocova | en_US |
| dc.contributor.author | Nikolina Zdraveska | en_US |
| dc.contributor.author | Maja Stojiljkovic | en_US |
| dc.contributor.author | Anita Skakic | en_US |
| dc.contributor.author | Kristel Klaassen | en_US |
| dc.contributor.author | Sonja Pavlovic | en_US |
| dc.date.accessioned | 2021-03-16T10:41:00Z | - |
| dc.date.available | 2021-03-16T10:41:00Z | - |
| dc.date.issued | 2021-03-14 | - |
| dc.identifier.uri | http://hdl.handle.net/20.500.12188/10994 | - |
| dc.description.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. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Springer | en_US |
| dc.relation.ispartof | Endocrine | en_US |
| dc.title | A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia | en_US |
| dc.type | Article | en_US |
| dc.identifier.doi | 10.1007/s12020-021-02680-7 | - |
| item.grantfulltext | none | - |
| item.fulltext | No Fulltext | - |
| crisitem.author.dept | Faculty of Medicine | - |
| crisitem.author.dept | Faculty of Medicine | - |
| crisitem.author.dept | Faculty of Medicine | - |
| Appears in Collections: | Faculty of Medicine: Journal Articles | |
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