Associated Papers
CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing.
Cao Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
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 with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.
Kara L et al.
European Journal of Medical Genetics, 2024
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.
Maheshwari M et al.
Journal of the Endocrine Society, 2022
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.
Yin M et al.
Frontiers in Endocrinology, 2022
Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.
Zhou Y et al.
The Journal of International Medical Research, 2021
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients.
Qin F et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2019
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.
Wijaya M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.
Han B et al.
Gene, 2013
[Diagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature review].
Zhang L et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2008
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