Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia

Objective: Congenital lipid adrenal hyperplasia (LCAH) is the most serious type of congenital adrenal hyperplasia and is caused by steroid-based acute regulatory (STAR) protein mutations. Herein, we report compound heterozygous mutations c.558C>A (p.S186 R) and c.772C>T (p.Q258*) in a newborn...

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Detalles Bibliográficos
Autores principales: Liu, Jie, Dai, Hong-Mei, Guang, Gao-Peng, Hu, Wen-Mu, Jin, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887130/
https://www.ncbi.nlm.nih.gov/pubmed/36733346
http://dx.doi.org/10.3389/fgene.2023.1096454

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887130/
https://www.ncbi.nlm.nih.gov/pubmed/36733346
http://dx.doi.org/10.3389/fgene.2023.1096454

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