Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency
Objective11β-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, the high degree of sequence identity between CY...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
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Frontiers Media S.A.
2022-05-01
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| Serie: | Frontiers in Endocrinology |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fendo.2022.882863/full |
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