Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia

PURPOSE: Apparent mineralocorticoid excess (AME) is an ultrarare autosomal recessive disorder resulting from deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) caused by mutations in HSD11B2. The purpose of this study was to identify novel compound heterozygous HSD11B2 mutations in a Ch...

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Bibliographic Details
Published in:Endocrine
Main Authors: Fan, Peng, Lu, Yi-Ting, Yang, Kun-Qi, Zhang, Di, Liu, Xue-Ying, Tian, Tao, Luo, Fang, Wang, Lin-Ping, Ma, Wen-Jun, Liu, Ya-Xin, Zhang, Hui-Min, Song, Lei, Cai, Jun, Lou, Ying, Zhou, Xian-Liang
Format: Artigo
Language:Inglês
Published: Springer US 2020
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7674368/
https://ncbi.nlm.nih.gov/pubmed/32816205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12020-020-02460-9
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