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Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.
Pomahacova R, Zamboryova J, Paterova P, Krepelova A, Subrt I, Jaklova R, Vohradska P, Hrdonkova E, Sykora J. Pomahacova R, et al. Among authors: jaklova r. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019 Dec;163(4):379-382. doi: 10.5507/bp.2018.067. Epub 2018 Nov 6. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019. PMID: 30401990 Free article.
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P, Indrakova J, Savige J, Kuhnova P, Tvrda P, Cerna D, Hilscherova S, Kudrejova M, Polendova D, Jaklova R, Langova M, Jahnova H, Lastuvkova J, Dusek J, Gut J, Vlckova M, Solarova P, Kreckova G, Kantorova E, Soukalova J, Slavkovsky R, Zapletalova J, Tichy T, Thomasova D. Plevova P, et al. Among authors: jaklova r. Front Med (Lausanne). 2023 Feb 8;10:1096869. doi: 10.3389/fmed.2023.1096869. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844206 Free PMC article.