Associated Papers
17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.
Li JB et al.
Translational Pediatrics, 2025
41141657 (PubMed )
Supplement: tp-14-09-2381-prf.pdf
Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center.
Sheya A et al.
Endocrine Regulations, 2025
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.
Tian Y et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2023
A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
Lee ES et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
Identification of a novel mutation in CYP17A1 gene.
Xue LQ et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2013
[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
Jiang Y et al.
Zhonghua Yi Xue Za Zhi, 2011
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
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