The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self-esteem. In the most severe cases life-threa...

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Udgivet i:Front Endocrinol (Lausanne)
Main Authors: Pignatelli, Duarte, Carvalho, Berta L., Palmeiro, Aida, Barros, Alberto, Guerreiro, Susana G., Macut, Djuro
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019
Fag:
Endocrinology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6620563/
https://ncbi.nlm.nih.gov/pubmed/31333583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2019.00432
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