New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images

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...

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Bibliographic Details
Main Authors: Yuqing Jiang, Huifang Peng, Rui Zhao, Yina Chang, Jie Liu, Liujun Fu, Liping Li, Yujin Ma, Wei Li, Hongwei Jiang
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CT image change of adrenal
infertility issue
minigene
NR0B1 (nuclear receptor subfamily 0 group B member 1)
splice‐site variant
X‐linked AHC
Online Access:https://doi.org/10.1002/mgg3.2171

Internet

https://doi.org/10.1002/mgg3.2171

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