Genetic aetiology of primary adrenal insufficiency in Chinese children

Genetic aetiology of primary adrenal insufficiency in Chinese children

Abstract Background Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China and explore their clinical features. Methods Seve...

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Bibliographic Details
Main Authors: Zhuo Chang, Wei Lu, Zhuhui Zhao, Li Xi, Xiaojing Li, Rong Ye, Jinwen Ni, Zhou Pei, Miaoying Zhang, Ruoqian Cheng, Zhangqian Zheng, Chengjun Sun, Jing Wu, Feihong Luo
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Primary adrenal insufficiency
Genetic diagnosis
Whole-exome sequencing
Congenital adrenal hyperplasia
Triple A syndrome
X-linked adrenoleukodystrophy
Online Access:https://doi.org/10.1186/s12920-021-01021-x

Internet

https://doi.org/10.1186/s12920-021-01021-x

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