Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome

Patients with congenital adrenal hyperplasia (CAH) with tenascin-X deficiency (CAH-X syndrome) have both endocrine imbalances and characteristic Ehlers Danlos syndrome phenotypes. Unlike other subtypes, tenascin-X-related Ehlers Danlos syndrome is caused by an extracellular matrix protein deficiency...

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Bibliographic Details
Main Authors: Morissette, Rachel, Merke, Deborah P., McDonnell, Nazli B.
Format: Artigo
Language:Inglês
Published: 2013
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3972366/
https://ncbi.nlm.nih.gov/pubmed/24380766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2013.12.004
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