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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Autors principals:	Jialin Li, Fenglan Zhang, Miao Xu, Hao Qiu, Cheng Zhou, Li Li, Lan Qin
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2023-11-01
Col·lecció:	Frontiers in Endocrinology
Matèries:	11β-hydroxylase deficiency molecular diagnosis whole exome sequencing chimeric CYP11B2/CYP11B1 missense variant
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fendo.2023.1216767/full
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