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Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
Title Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis / Stayroula Papailiou ... [et al.] Another responsib. Papailiou, Stayroula (Author) Note Bibliogr. odkazy. Res. angl. In Endocrine regulations. -- ISSN 1210-0668. -- Vol. 54, no. 3 (2020), s. 227-229 Call number C 1685 MeSH Subject cytochróm P-450 CYP11B2 - deficit - genetika - novorodenec mutácia príznaky a symptómy diagnostika diferenciálna farmakoterapia novorodenec Keywords deficiencia aldosterónsyntázy typ II * varianty génové patogénne * gén CYP11B2 * mutácia génu CYP11B2 - variant c.554C>T (p.T185I) * kazuistika Language English Country Slovakia Database ARTICLES 
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Number of the records: 1