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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S. Karlsson L, et al. Among authors: de paula michelatto d. Clin Biochem. 2019 Nov;73:50-56. doi: 10.1016/j.clinbiochem.2019.07.009. Epub 2019 Jul 22. Clin Biochem. 2019. PMID: 31344365
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.
Silva-Grecco RLD, de Paula Michelatto D, Lincoln-de-Carvalho CR, Henrique PP, da Cunha HM, Palandi-de-Mello M. Silva-Grecco RLD, et al. Among authors: de paula michelatto d. Mol Genet Metab Rep. 2015 Nov 9;5:98-102. doi: 10.1016/j.ymgmr.2015.10.011. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649552 Free PMC article.