First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy
October 2007
in “
Clinical Biochemistry
”
Studysummary This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
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