Загрузка...
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...
Сохранить в:
| Опубликовано в: : | J Endocr Soc |
|---|---|
| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Endocrine Society
2019
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6551921/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-LB067 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|