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Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosom...
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| Udgivet i: | Horm Res Paediatr |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6057477/ https://ncbi.nlm.nih.gov/pubmed/29734195 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000481911 |
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