Article
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism - 1 Feb 2013
Merke Deborah P, Chen Wuyan, Morissette Rachel, Xu Zhi, Van Ryzin Carol, Sachdev Vandana, Hannoush Hwaida, Shanbhag Sujata M, Acevedo Ana T, Nishitani Miki, Arai Andrew E, McDonnell Nazli B
Abstract excerpt
CONTEXT: 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. OBJECTIVE: The objective of the study was to...
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