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MON-177 CAH-X Syndrome in a German Cohort of Patients with Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is encoded by the CYP21A2 gene. The CYP21A2 gene is flanked and partially overlapped by the TNXB gene encoding an extracellular matrix protein called Tenascin-X. Deficiency of Tenascin X can cause the Ehlers-Danlos Syndrome (EDS)....
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| Publicado no: | J Endocr Soc |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7207481/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1671 |
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