Portrat, S

Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. [electronic resource] - The Journal of clinical endocrinology and metabolism Jul 2001 - 3197-201 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0021-972X

10.1210/jcem.86.7.7671 doi


Adrenal Hyperplasia, Congenital--blood
Aldosterone--blood
Androstenedione--blood
Animals
Blotting, Southern
COS Cells
Child, Preschool
Cortodoxone--blood
Crossing Over, Genetic
Cyproterone Acetate--therapeutic use
Cytochrome P-450 CYP11B2--genetics
DNA, Complementary--genetics
Exons
Gene Deletion
Gene Expression
Homozygote
Humans
Male
Polymerase Chain Reaction
Promoter Regions, Genetic
Puberty, Precocious--drug therapy
Renin--blood
Steroid 11-beta-Hydroxylase--genetics
Transfection