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

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...

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Principais autores: Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen
Format: Artigo
Sprog:Inglês
Udgivet: Pediatric Endocrinology and Diabetes Society 2024-09-01
Serier:JCRPE
Fag:
11β
-hydroxylase deficiency
11β-ohd
cyp11b1
chimeric gene
Online adgang:https://jcrpe.org/jvi.aspx?un=JCRPE-43434&volume=16&issue=3
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