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

• Asıl Yazarlar: Wenjuan Cai (Yazar), Dan Yu (Yazar), Jian Gao (Yazar), Qian Deng (Yazar), Huihui Lin (Yazar), Yuqing Chen (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Galenos Yayincilik, 2024-09-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...