Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

• Main Authors: Menglin Wang (Author), Hao Wang (Author), Haiying Zhao (Author), Ling Li (Author), Min Liu (Author), Fujia Liu (Author), Fansen Meng (Author), Caini Fan (Author)
• Format: Book
• Published: BMC, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds...