11-Beta-Hydroxylase Deficiency

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11-Beta-Hydroxylase Deficiency


Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension., Disease or Syndrome

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