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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Ko, Hyun Sun, Lee, Seungok, Chae, Hyojin, Choi, Sae Kyung, Kim, Myungshin, Park, In Yang, Suh, Byung Kyu, Shin, Jong Chul
Médium: Artigo
Jazyk:Inglês
Vydáno: Yonsei University College of Medicine 2011
Témata:
Case Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky