Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females and hypocortisolism. Hyponatremia and hyperkalem...
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| Main Authors: | , |
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| Format: | Book |
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Galenos Yayincilik,
2021-09-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |