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Yin M, Yang J, Tian Q, Zhang X.
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An Asian case of combined 17alpha-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
Liao Q, Shen R, Liao M, Ran C, Zhou L, Zhang Y, Peng G, Sun Z, Zheng H, Long M.
Front Endocrinol (Lausanne). 2022 Oct 19;13:989447. doi: 10.3389/fendo.2022.989447. eCollection 2022.
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Yanase T.
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A rare case of 17alpha-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
Dai LZ, Ma H, Ke JF, Lin CS, Huang Y, Tian Y, Chen D.
Womens Health (Lond). 2022 Jan-Dec;18:17455057221122597. doi: 10.1177/17455057221122597.
Endocrine profiles and cycle characteristics of infertile 17alpha-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P, Zheng L, Huang J, Chen X, Ni R, Zhang Q, Yang D, Li Y.
J Ovarian Res. 2023 Jun 14;16(1):111. doi: 10.1186/s13048-023-01190-6.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):71-78. doi: 10.1016/j.jsbmb.2016.02.002. Epub 2016 Feb 6.
17 alpha-hydroxylase deficiency in a genetic male and female sibling pair.
Sills IN, MacGillivray MH, Amrhein JA, Migeon CJ, Peterson RE.
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Full-term live birth in a woman with 17alpha-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report.
Xi S, Yang X, Shan X, Xue Q.
BMC Womens Health. 2023 Aug 4;23(1):408. doi: 10.1186/s12905-023-02492-z.
Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17alpha-hydroxylase/17,20-lyase deficiency.
Yamagata S, Kageyama K, Usui T, Saito K, Takayasu S, Usutani M, Terui K, Daimon M.
Endocr J. 2022 Feb 28;69(2):115-120. doi: 10.1507/endocrj.EJ21-0266. Epub 2021 Sep 3.
[A case of 46,XX 17-alpha hydroxylase deficiency with malignant germ tumor of gonad].
[No authors listed]
Zhonghua Fu Chan Ke Za Zhi. 2023 Apr 25;58(4):301-304. doi: 10.3760/cma.j.cn112141-20220907-00568.
