article_metadata: Jialin Li Fenglan Zhang Miao Xu Hao Qiu Cheng Zhou Li Li Lan Qin
article_metadata: 10.3389/fendo.2023.1216767
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2023 Nov 13:14:1216767.
article_metadata: 11β-hydroxylase deficiency chimeric cyp11b2/cyp11b1 missense variant molecular diagnosis whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38027139/
article_metadata: Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Steroid 11-beta-Hydroxylase / genetics
article_metadata: Adrenal Hyperplasia, Congenital / diagnosis Adrenal Hyperplasia, Congenital / genetics Steroid 11-beta-Hydroxylase / genetics Case Reports Research Support, Non-U.S. Gov't Cytochrome P-450 CYP11B2 / genetics East Asian People Female Humans Mixed Function Oxygenases Steroid 11-beta-Hydroxylase Cytochrome P-450 CYP11B2 Mixed Function Oxygenases Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
article_metadata: PMC10679387
article_metadata: 38027139
article_metadata: Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B 1 variant causing 11β-Hydroxylase deficiency in a Chinese patient
article_metadata: 2023