Condition: Corticosterone Methyl Oxidase Type I Deficiency
rs72554627
in
GML;CYP11B2
gene and
Corticosterone Methyl Oxidase Type I Deficiency
PMID 9177280
1997 CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
PMID 11238478
2001 Type 1 aldosterone synthase deficiency presenting in a middle-aged man.