Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency
Author:
Publisher
Informa UK Limited
Subject
Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://www.tandfonline.com/doi/pdf/10.3109/09513590.2014.943721
Reference20 articles.
1. 17-hydroxylation deficiency in man.
2. Differential Inhibition of 17α-Hydroxylase and 17,20-Lyase Activities by Three Novel Missense CYP17 Mutations Identified in Patients with P450c17 Deficiency
3. Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency
4. Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency
5. A new compound heterozygous mutation in theCYP17A1gene in a female with 17α-hydroxylase/17,20-lyase deficiency
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2. Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion;Discovery Medicine;2024
3. Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report;Open Life Sciences;2023-01-01
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