Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the <i>CYP19A1</i> Gene-Reference-Cited by-同舟云学术

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Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

Published:2020-03-01 Issue:1 Volume:12 Page:109-112
ISSN:1308-5727
Container-title:Journal of Clinical Research in Pediatric Endocrinology
language:
Short-container-title:Jcrpe

Author:

Özen Samim^ORCID,Atik Tahir^ORCID,Korkmaz Özlem,Onay Hüseyin^ORCID,Gökşen Damla,Özkınay Ferda^ORCID,Çoğulu Özgür^ORCID,Darcan Şükran^ORCID

Publisher

Galenos Yayinevi

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Cited by 9 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. Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization;Case Reports in Perinatal Medicine;2024-01-01

2. Structures and functions of human placental aromatase and steroid sulfatase, two key enzymes in estrogen biosynthesis;Steroids;2023-08

3. 46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters;Annales d'Endocrinologie;2023-06

4. Hypergonadism;Steroids in the Laboratory and Clinical Practice;2023

5. In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme;Journal of Genetics;2021-04-28

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