The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 2...
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency
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Author / Creator
Gao, Yinjie , Lu, Lin , Yu, Bingqing , Mao, Jiangfeng , Wang, Xi , Nie, Min and Wu, Xueyan
Publisher
US: Oxford University Press
Journal title
Language
English
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Publication information
Publisher
US: Oxford University Press
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Contents
Abstract
Purpose
Defects in both CYP21A2 and TNXB genes can cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers–Danlos syndrome (EDS), which has recently been named CAH-X syndrome. The purpose of this study is to assess the prevalence of the chimeric TNXA/TNXB gene and clinical symptoms in a Chinese cohort with 21-hyd...
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Full title
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency
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Author / Creator
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Record Identifier
TN_cdi_gale_infotracmisc_A642515967
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A642515967
Other Identifiers
ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/clinem/dgaa199