A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.
Lian DuanRufei ShenLingyu SongYong LiaoHongting ZhengPublished in: BMC endocrine disorders (2018)
Our results suggest that chimera screening and CYP11B1 mutation screening should be simultaneously conducted, and pedigree study is necessary.