Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings

Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal...

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מידע ביבליוגרפי
Main Authors: Ko, Hyun Sun, Lee, Seungok, Chae, Hyojin, Choi, Sae Kyung, Kim, Myungshin, Park, In Yang, Suh, Byung Kyu, Shin, Jong Chul
פורמט: Artigo
שפה:Inglês
יצא לאור: Yonsei University College of Medicine 2011
נושאים:
Case Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3220249/
https://ncbi.nlm.nih.gov/pubmed/22028173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2011.52.6.1035
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