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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| Hoofdauteur: | |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Korean Society of Pediatric Endocrinology
2014-12-01
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| Reeks: | Annals of Pediatric Endocrinology & Metabolism |
| Onderwerpen: | |
| Online toegang: | http://e-apem.org/upload/pdf/apem-19-179.pdf |
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