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...

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Bibliografiske detaljer
Main Authors: Park, Hye Won, Kwak, Byung Ok, Kim, Gu-Hwan, Yoo, Han-Wook, Chung, Sochung
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Society of Pediatric Endocrinology 2013
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4027067/
https://ncbi.nlm.nih.gov/pubmed/24904850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2013.18.1.40
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