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

ConclusionX-linked adrenal hypoplasia congenita is produced by variants ofNR0B1. We report a case that presents a novel splice-site variant, which has been verified that it could lead to the exon 2 skipping in the RNA splicing progress. Moreover, we report the adrenal CT image change of patient 2, which has never been referred to before, and expand the spectrum of X-linked AHC characteristics.

Source: Molecular Genetics & Genomic Medicine - April 29, 2023 Category: Genetics & Stem Cells Authors: Yuqing Jiang, Huifang Peng, Rui Zhao, Yina Chang, Jie Liu, Liujun Fu, Liping Li, Yujin Ma, Wei Li, Hongwei Jiang Tags: CLINICAL REPORT Source Type: research