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...

Full description

Saved in:
Bibliographic Details
Main Authors: Ko, Hyun Sun, Lee, Seungok, Chae, Hyojin, Choi, Sae Kyung, Kim, Myungshin, Park, In Yang, Suh, Byung Kyu, Shin, Jong Chul
Format: Artigo
Language:Inglês
Published: Yonsei University College of Medicine 2011
Subjects:
Case Report
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items