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Congenital lipoid adrenal hyperplasia

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present wit...

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Detalles Bibliográficos
Autor principal: Kim, Chan Jong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316413/
https://www.ncbi.nlm.nih.gov/pubmed/25654062
http://dx.doi.org/10.6065/apem.2014.19.4.179