17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the <b><i>CYP17A1</i></b> Gene-Reference-Cited by-同舟云学术

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17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene

Published:2014 Issue:5 Volume:81 Page:350-355
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Petri Christina,Wudy Stefan A.,Riepe Felix G.,Holterhus Paul-Martin,Siegel Jens,Hartmann Michaela F.,Kulle Alexandra E.,Welzel Maik,Grötzinger Joachim,Schild Ralf L.,Heger Sabine

Publisher

S. Karger AG

Subject

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

Cited by 6 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. 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

2. Novel mutations of the CYP17A1 gene cause disorders of sex development in two-chromosome karyotype 46,XY infants and a literature review: A case report;2023-11-29

3. Cortisol deficiency;Steroids in the Laboratory and Clinical Practice;2023

4. Role of Single Nucleotide Polymorphism of СУР17А Gene in the Development of Stroke;Rational Pharmacotherapy in Cardiology;2018-09-04

5. Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’;European Journal of Endocrinology;2017-05

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