Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease
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DOI: 10.3389/fgene.2022.845016
Abstract: 17a-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Female patients present with hypertension, hypokalemia, and sexual infantilism while males present with sex development disorder. Moyamoya disease (MMD) is a chronic cerebrovascular disease that… read more here.
Keywords: hydroxylase lyase; disease; lyase deficiency; 17a hydroxylase ... See more keywords