Article
Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency.
Frontiers in endocrinology - 1 Jan 2022
Xie Hua, Yin Hui, Ye Xue, Liu Ying, Liu Na, Zhang Yu, Chen Xiaoli, Chen Xiaobo
Abstract excerpt
Objective: 11β-Hydroxylase deficiency (11β-OHD) caused by mutations in the CYP11B1 gene is the second most common form of congenital adrenal hyperplasia. Both point mutations and genomic rearrangements of CYP11B1 are important causes of 11β-OHD. However, the high degree of sequence identity between CYP11B1 and its homologous gene CYP11B2, presents unique challenges for molecular diagnosis of suspected 11β-OHD....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.