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

ObjectiveTo 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 methodsData were obtained from 104...

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Bibliografski detalji

Glavni autori:	Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2023-03-01
Serija:	Frontiers in Endocrinology
Teme:	congenital adrenal hyperplasia CAH CYP21A2 genotype-phenotype 21 hydroxylase deficiency 21-OH deficiency
Online pristup:	https://www.frontiersin.org/articles/10.3389/fendo.2023.1134133/full
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