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...

Descripción completa

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

Internet

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

Ejemplares similares