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

• Päätekijät: Wenjuan Cai (Tekijä), Dan Yu (Tekijä), Jian Gao (Tekijä), Qian Deng (Tekijä), Huihui Lin (Tekijä), Yuqing Chen (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Galenos Yayincilik, 2024-09-01T00:00:00Z.
• Aiheet: article
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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...