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Congenital lipoid adrenal hyperplasia
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present wit...
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| Udgivet i: | Ann Pediatr Endocrinol Metab |
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| Hovedforfatter: | |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Korean Society of Pediatric Endocrinology
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4316413/ https://ncbi.nlm.nih.gov/pubmed/25654062 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2014.19.4.179 |
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