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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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| Published in: | J Endocr Soc |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Endocrine Society
2019
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| Subjects: | |
| Online Access: | 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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