Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.

Autor: Karlsson L; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden., de Paula Michelatto D; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., Lusa ALG; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., D'Almeida Mgnani Silva C; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Östberg LJ; Science for Life Laboratory and eSSENCE, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Persson B; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden., Guerra-Júnior G; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Valente de Lemos-Marini SH; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Baldazzi L; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Menabó S; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Balsamo A; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Greggio NA; Department of Women's and Children's Health of Padua, Pediatric Endocrinology Unit, Italy., Palandi de Mello M; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., Barbaro M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Inherited Metabolic Diseases (CMMS L7:05), Karolinska University Hospital, Stockholm, Sweden., Lajic S; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden. Electronic address: Svetlana.Lajic@ki.se.

Publikováno v: Clinical biochemistry [Clin Biochem] 2019 Nov; Vol. 73, pp. 50-56. Date of Electronic Publication: 2019 Jul 22.