Associated Papers
Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.
Martínez de Lapiscina I et al.
International Journal of Molecular Sciences, 2024
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development].
Cao YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
Beştaş A et al.
Endocrine, 2022
Case report: 17α- hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients.
Li J et al.
Frontiers in Pediatrics, 2022
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 2014
A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.
Qiao J et al.
European Journal of Endocrinology, 2011
Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
Yang J et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Select a paper to view details