A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia

RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone...

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Detalles Bibliográficos
Autores principales: Fu, Rong, Lu, Lin, Jiang, Jun, Nie, Min, Wang, Xiaojing, Lu, Zhaolin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
4300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457889/
https://www.ncbi.nlm.nih.gov/pubmed/28538409
http://dx.doi.org/10.1097/MD.0000000000006994

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457889/
https://www.ncbi.nlm.nih.gov/pubmed/28538409
http://dx.doi.org/10.1097/MD.0000000000006994

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