Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency

Objective11β-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 CY...

Full description

Bibliographic Details

Main Authors:	Hua Xie, Hui Yin, Xue Ye, Ying Liu, Na Liu, Yu Zhang, Xiaoli Chen, Xiaobo Chen
Format:	Artigo
Language:	Inglês
Published:	Frontiers Media S.A. 2022-05-01
Series:	Frontiers in Endocrinology
Subjects:	11β-hydroxylase deficiency molecular diagnosis chimeric CYP11B2/CYP11B1 gene founder rearrangement small deletion
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2022.882863/full
Tags:	Add Tag No Tags, Be the first to tag this record!