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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Detalles Bibliográficos
Autores principales: Ko, Hyun Sun, Lee, Seungok, Chae, Hyojin, Choi, Sae Kyung, Kim, Myungshin, Park, In Yang, Suh, Byung Kyu, Shin, Jong Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220249/
https://www.ncbi.nlm.nih.gov/pubmed/22028173
http://dx.doi.org/10.3349/ymj.2011.52.6.1035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220249/
https://www.ncbi.nlm.nih.gov/pubmed/22028173
http://dx.doi.org/10.3349/ymj.2011.52.6.1035

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