TY - JOUR AU - Wang, Menglin AU - Wang, Hao AU - Zhao, Haiying AU - Li, Ling AU - Liu, Min AU - Liu, Fujia AU - Meng, Fansen AU - Fan, Caini PY - 2019 DA - 2019/10/15 TI - Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population JO - Clinical Hypertension SP - 23 VL - 25 IS - 1 AB - 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 of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific. SN - 2056-5909 UR - https://doi.org/10.1186/s40885-019-0128-6 DO - 10.1186/s40885-019-0128-6 ID - Wang2019 ER -