New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images
Abstract Background X‐linked adrenal hypoplasia congenita (AHC) is a rare disorder, often manifesting as primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), and caused by variants of NR0B1, most of which are frame‐shifting variants, and few splice‐site variants. Methods and R...
Main Authors: | Yuqing Jiang, Huifang Peng, Rui Zhao, Yina Chang, Jie Liu, Liujun Fu, Liping Li, Yujin Ma, Wei Li, Hongwei Jiang |
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Format: | Article |
Language: | English |
Published: |
Wiley
2023-06-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2171 |
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