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  • Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

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Diagnostics
Original research
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

Authors

  • Ying Duan Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Wanqi Zheng Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Yu Xia Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Huiwen Zhang Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Lili Liang Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Ruifang Wang Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Yi Yang Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Kaichuang Zhang Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Deyun Lu Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Yuning Sun Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Lianshu Han Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Yongguo Yu Department of Pediatric Endocrinology and Genetic Metabolism, Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Xuefan Gu Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Yu Sun Department of Pediatric Endocrinology and Genetic Metabolism, Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Bing Xiao Department of Pediatric Endocrinology and Genetic Metabolism, Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  • Wenjuan Qiu Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Wenjuan Qiu, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Yangpu, Shanghai, 200082, China; qiuwenjuan{at}xinhuamed.com.cn; Dr Bing Xiao; xiaobing{at}xinhuamed.com.cn; Dr Yu Sun; sunyu{at}xinhuamed.com.cn
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Citation

Duan Y, Zheng W, Xia Y, et al
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
Journal of Medical Genetics 2024;61:27-35.

Publication history

  • Received September 19, 2022
  • Accepted July 4, 2023
  • First published August 16, 2023.
Online issue publication 
December 21, 2023

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.