Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of <i>CYP21A2</i> Gene
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects. The most common variant of CAH, 21-hydroxylase deficiency (21OHD), is the result of pathogenic variants in the <i...
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| Κύριος συγγραφέας: | |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
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MDPI AG
2024-05-01
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| Σειρά: | Current Issues in Molecular Biology |
| Θέματα: | |
| Διαθέσιμο Online: | https://www.mdpi.com/1467-3045/46/5/291 |
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