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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

INTRODUCTION: 11β-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 imp...

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Detalles Bibliográficos
Autores principales:	Li, Jialin, Zhang, Fenglan, Xu, Miao, Qiu, Hao, Zhou, Cheng, Li, Li, Qin, Lan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10679387/ https://www.ncbi.nlm.nih.gov/pubmed/38027139 http://dx.doi.org/10.3389/fendo.2023.1216767

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