Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia | Zendy

Rachel Morissette | Zendy; Wuyan Chen | Zendy; Ashley F. Perritt | Zendy; Jennifer L. Dreiling | Zendy; Andrew E. Arai | Zendy; Vandana Sachdev | Zendy; Hwaida Hannoush | Zendy; Ashwini Mallappa | Zendy; Xu Zhi | Zendy; Nazli B. McDonnell | Zendy; Martha Quezado | Zendy; Deborah P. Merke | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

Author(s) -

Rachel Morissette,

Wuyan Chen,

Ashley F. Perritt,

Jennifer L. Dreiling,

Andrew E. Arai,

Vandana Sachdev,

Hwaida Hannoush,

Ashwini Mallappa,

Xu Zhi,

Nazli B. McDonnell,

Martha Quezado,

Deborah P. Merke

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2015-2232

Subject(s) - ehlers–danlos syndrome , sanger sequencing , phenotype , biology , missense mutation , genetics , pseudoxanthoma elasticum , microbiology and biotechnology , medicine , pathology , gene , mutation

The contiguous gene deletion syndrome (CAH-X) was described in a subset (7%) of congenital adrenal hyperplasia (CAH) patients with a TNXA/TNXB chimera, resulting in deletions of CYP21A2, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). This TNXA/TNXB chimera is characterized by a 120-bp deletion in exon 35 and results in TNXB haploinsufficiency, disrupted TGF-β signaling, and an Ehlers Danlos syndrome phenotype.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research