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A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
Anastasovska, Violeta; Kocova, Mirjana; Zdraveska, Nikolina; Stojiljkovic, Maja; Skakic, Anita; Klaassen, Kristel; Pavlovic, Sonja.
Affiliation
  • Anastasovska V; Genetic Laboratory, Department of Endocrinology and Genetics, University Clinic for Pediatrics, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, Republic of North Macedonia. violeta_anastasovska@yahoo.com.
  • Kocova M; Genetic Laboratory, Department of Endocrinology and Genetics, University Clinic for Pediatrics, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, Republic of North Macedonia.
  • Zdraveska N; Department of Neonatology, University Clinic for Pediatrics, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine, Skopje, Republic of North Macedonia.
  • Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Skakic A; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Klaassen K; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Pavlovic S; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Endocrine ; 73(1): 196-202, 2021 07.
Article in En | MEDLINE | ID: mdl-33715135

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Hyperplasia, Congenital Type of study: Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Endocrine Journal subject: ENDOCRINOLOGIA Year: 2021 Type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Hyperplasia, Congenital Type of study: Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Endocrine Journal subject: ENDOCRINOLOGIA Year: 2021 Type: Article