Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.882863
Abstract: Objective 11β-Hydroxylase deficiency (11β-OHD) caused by mutations in the CYP11B1 gene is the second most common form of congenital adrenal hyperplasia. Both point mutations and genomic rearrangements of CYP11B1 are important causes of 11β-OHD. However,… read more here.
Keywords: cyp11b1; chimeric cyp11b2; gene; cyp11b1 gene ... See more keywords
CYP11B1 gene polymorphisms and susceptibility to ischemic stroke in a Chinese Han population
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.1030551
Abstract: Objectives Ischemic stroke (IS) is the major cause of death and disability. While previous studies confirmed that CYP11B1 is closely associated with IS, the present study aimed to analyze the impact of CYP11B1 gene polymorphisms… read more here.
Keywords: gene polymorphisms; susceptibility; ischemic stroke; cyp11b1 gene ... See more keywords
Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency
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DOI: 10.3389/fped.2020.00410
Abstract: Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate… read more here.
Keywords: clinical molecular; analysis; hydroxylase deficiency; cyp11b1 gene ... See more keywords