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 beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Ko, Hyun Sun, Lee, Seungok, Chae, Hyojin, Choi, Sae Kyung, Kim, Myungshin, Park, In Yang, Suh, Byung Kyu, Shin, Jong Chul
Materialtyp: Artigo
Språk:Inglês
Publicerad: Yonsei University College of Medicine 2011
Ämnen:
Case Report
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk