Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes.
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene
D'ANDREA, GIOVANNA;MARGAGLIONE, MAURIZIO;SANTACROCE, ROSA
2014-01-01
Abstract
Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes.File in questo prodotto:
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