Associated Papers
A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H et al.
Blood Pressure, 2023
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
Shi M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.
Han B et al.
Gene, 2013
Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
Wei JQ et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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