Title : Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.

Pub. Date : 2022 Feb 28

PMID : 34483146






1 Functional Relationships(s)
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1 Rapid ACTH injection resulted in elevations in the deoxycorticosterone, corticosterone, aldosterone, and 17-hydroxypregnenolone levels, but not in the cortisol level. Corticosterone proopiomelanocortin Homo sapiens