Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia

BACKGROUND: Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS) in rare...

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Detalles Bibliográficos
Autores principales: Li, Zhuoguang, Liang, Yan, Du, Caiqi, Yu, Xiao, Hou, Ling, Wu, Wei, Ying, Yanqing, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620188/
https://www.ncbi.nlm.nih.gov/pubmed/34823514
http://dx.doi.org/10.1186/s12902-021-00901-8

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