p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Pediatric Endocrinology
2013-03-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-18-40.pdf |