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STAR mutations causing non-classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by single cortisol deficiency but normal aldosterone and renin levels. Beginning from the discovery of the disease to that of the pathogenic genes over a period of 30 years, the development of gene detection...

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Dades bibliogràfiques
Publicat a:Mol Med Rep
Autors principals: Luo, Yuanyuan, Bai, Ruojing, Wang, Zhifang, Zhu, Xiaofan, Xing, Jingjing, Li, Xialian
Format: Artigo
Idioma:Inglês
Publicat: D.A. Spandidos 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7339677/
https://ncbi.nlm.nih.gov/pubmed/32627004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11140
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