Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the resu...
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| Other Authors: | , |
| Format: | article |
| Language: | eng |
| Published: |
2016
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| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.4/1902 |
| Country: | Portugal |
| Oai: | oai:rihuc.huc.min-saude.pt:10400.4/1902 |