Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene

• Autori principali: Wenjuan Cai (Autore), Dan Yu (Autore), Jian Gao (Autore), Qian Deng (Autore), Huihui Lin (Autore), Yuqing Chen (Autore)
• Natura: Libro
• Pubblicazione: Galenos Yayincilik, 2024-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11β-OHD has been attributed to diminished enzymatic activity owing to CYP11B1 gene variants, mainly encompassing single nucleotide variations and...