Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia | Zendy

Deborah P. Merke | Zendy; Wuyan Chen | Zendy; Rachel Morissette | Zendy; Xu Zhi | Zendy; Carol Van Ryzin | Zendy; Vandana Sachdev | Zendy; Hwaida Hannoush | Zendy; Sujata M. Shanbhag | Zendy; Ana Acevedo | Zendy; Miki Nishitani | Zendy; Andrew E. Arai | Zendy; Nazli B. McDonnell | Zendy

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Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

Author(s) -

Deborah P. Merke,

Wuyan Chen,

Rachel Morissette,

Xu Zhi,

Carol Van Ryzin,

Vandana Sachdev,

Hwaida Hannoush,

Sujata M. Shanbhag,

Ana Acevedo,

Miki Nishitani,

Andrew E. Arai,

Nazli B. McDonnell

Publication year - 2013

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.2012-3148

Subject(s) - haploinsufficiency , ehlers–danlos syndrome , medicine , congenital adrenal hyperplasia , pathology , genetics , endocrinology , biology , gene , phenotype

The gene for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, CYP21A2, is flanked by the gene encoding tenascin-X (TNXB), a connective tissue extracellular matrix protein that has been linked to both autosomal dominant and autosomal recessive Ehlers-Danlos syndrome (EDS). A contiguous deletion of CYP21A2 and TNXB has been described.

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