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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Robert Saho, Vita Dolžan, Mojca Žerjav-Tanšek, Katarina Trebušak Podkrajšek, Jasna Šuput, Sara Bertok, Magdalena Avbelj, Primož Kotnik, Tadej Battelino, Urh Grošelj, Urh Grošelj
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Oznake: congenital adrenal hyperplasia;CAH;CYP21A2;genotype-phenotype;21 hydroxylase deficiency;21-OH deficiency;newborn screening;testicular adrenal rest tumors (TART);
Objective: To analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. Design and methods: Data were obtained from ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 1
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