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Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient

Introduction11β-Hydroxylase deficiency (11β-OHD, OMIM#202010) is the second most common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the CYP11B1 gene. Both single nucleotide variations (SNV)/small insertion and deletion and genomic rearrangements of CYP11B1 are impor...

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Principais autores: Jialin Li, Fenglan Zhang, Miao Xu, Hao Qiu, Cheng Zhou, Li Li, Lan Qin
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-11-01
Serier:Frontiers in Endocrinology
Fag:
11β-hydroxylase deficiency
molecular diagnosis
whole exome sequencing
chimeric CYP11B2/CYP11B1
missense variant
Online adgang:https://www.frontiersin.org/articles/10.3389/fendo.2023.1216767/full
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