Nalaganje...

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics o...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Front Pediatr
Main Authors: Zhou, Qiaoli, Wang, Dandan, Wang, Chunli, Zheng, Bixia, Liu, Qianqi, Zhu, Ziyang, Jia, Zhanjun, Gu, Wei
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7396487/
https://ncbi.nlm.nih.gov/pubmed/32850530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00410
Oznake: Označite
Brez oznak, prvi označite!