Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

Abstract Objective Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the flanking TNXB gene resulting in CAH-X, a contiguous gene deletion syndrome. TNXB encodes tenascin-X (TNX), an extracellular matri...

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Bibliographic Details
Main Authors: Vipula Kolli, Hannah Kim, Hamsini Rao, Qizong Lao, Alison Gaynor, Joshua D. Milner, Deborah P. Merke
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Research Notes
Subjects:
Congenital adrenal hyperplasia
Ehlers–Danlos syndrome
Tenascin-X
CYP21A2
TNXB
Online Access:http://link.springer.com/article/10.1186/s13104-019-4753-7

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http://link.springer.com/article/10.1186/s13104-019-4753-7

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