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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 2...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A642515967

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency

About this item

Full title

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency

Publisher

US: Oxford University Press

Journal title

The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.2288-2299

Language

English

Formats

Publication information

Publisher

US: Oxford University Press

More information

Scope and Contents

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...

Alternative Titles

Full title

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency

Identifiers

Primary Identifiers

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

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