SAT-LB067 Mutational Spectrum Determines Subtle Adrenal Biosynthetic Defect in Non-Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

There is a clinical spectrum of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH). In addition, CYP21A2 gene mutations analysis present in homozygosis or as compound heterozygosis. Herein we hypothesize that allele combination associates with specific biochemical...

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Bibliografske podrobnosti
izdano v:J Endocr Soc
Main Authors: Mermejo, Livia, Coeli-Lacchini, Fernanda, Turatti, Wendy, Pugliesi, Renata, Delai, Ariane, Rauber Antonini, Sonir, De Castro, Margaret, Moreira, Ayrton
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2019
Teme:
Adrenal
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551921/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-LB067
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