Rare Missense P450c17(CYP17A1)Mutation in Exon 1 as a Cause of 46,XY Disorder of Sexual Development: Implications of Breast Tissue Unresponsiveness' despite Adequate Estradiol Substitution
Author:
Publisher
S. Karger AG
Subject
Developmental Biology,Embryology,Endocrinology, Diabetes and Metabolism
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Gonad transcriptome analysis reveals the differences in gene expression related to sex-biased and reproduction of clam Cyclina sinensis;Frontiers in Marine Science;2023-01-16
2. An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature;Frontiers in Endocrinology;2022-10-19
3. A Rare Cause of Delayed Puberty in Two Siblings: A Case Report;Iranian Red Crescent Medical Journal;2020-07-04
4. A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations;Journal of Clinical Research in Pediatric Endocrinology;2018-07-31
5. Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign;Journal of Clinical Research in Pediatric Endocrinology;2017-06-01
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