Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

• Main Authors: Qiaoli Zhou (Author), Dandan Wang (Author), Chunli Wang (Author), Bixia Zheng (Author), Qianqi Liu (Author), Ziyang Zhu (Author), Zhanjun Jia (Author), Wei Gu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics o...