Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency

17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is an autosomal recessive disorder of male sex development that results in defective testosterone biosynthesis. Although mutations in the cognate HSD17B3 gene cause a spectrum of phenotypic manifestations, the majority of affected patients...

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Udgivet i:Mol Cell Endocrinol
Main Authors: Folsom, Lisal J., Hjaige, Mariam, Liu, Jiayan, Eugster, Erica A., Auchus, Richard J.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6511466/
https://ncbi.nlm.nih.gov/pubmed/30508571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mce.2018.11.014
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