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

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 (ED...

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Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565116/
https://ncbi.nlm.nih.gov/pubmed/23284009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-3148
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