Identification of a homozygous c.1039C>T (p.R347C) variant in <i>CYP17A1</i> in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency-Reference-Cited by-同舟云学术

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Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency

Published:2021 Issue: Volume: Page:
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Yamagata Satoshi¹,Kageyama Kazunori¹,Usui Takeshi²,Saito Kohei³,Takayasu Shinobu¹,Usutani Mari¹,Terui Ken¹,Daimon Makoto¹

Affiliation:

1. Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan

2. Shizuoka Graduate University of Public Health, Shizuoka 420-0881, Japan

3. Department of Medical Genetics, Shizuoka General Hospital, Shizuoka 420-8527, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ21-0266/_pdf

Cited by 3 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. Congenital Adrenal Hyperplasia;International Heart Journal;2024-01-31

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. A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review;Blood Pressure;2023-04-23

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