Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in ch...
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
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Author / Creator
Duan, Ying , Zheng, Wanqi , Xia, Yu , Zhang, Huiwen , Liang, Lili , Wang, Ruifang , Yang, Yi , Zhang, Kaichuang , Lu, Deyun , Sun, Yuning , Han, Lianshu , Yu, Yongguo , Gu, Xuefan , Sun, Yu , Xiao, Bing and Qiu, Wenjuan
Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
BackgroundPrimary adrenal insufficiency (PAI) is a rare but life-threatening condition. Differential diagnosis of numerous causes of PAI requires a thorough understanding of the condition.MethodsTo describe the genetic composition and presentations of PAI. The following data were collected retrospectively from 111 patients with non-21OHD with defin...
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Full title
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
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TN_cdi_proquest_miscellaneous_2852631871
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2852631871
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2022-108952
