Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Abstract Background 11β-hydroxylase deficiency (11β-OHD), caused by homozygosity or compound heterozygosity CYP11B1 variants, is the second most common cause of congenital adrenal hyperplasia (CAH). Due to the high degree of sequence identity between CYP11B1 and CYP11B2, chimeric genes, and complex...

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Hlavní autoři:	Jidong Liu, Huihui Tian, Xinchen Jin, Yanxiang Wang, Zhenhong Zhang, Mengxue Li, Lulu Dai, Xiaoli Zhang, Ling Jiang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-10-01
Edice:	BMC Endocrine Disorders
Témata:	11β-hydroxylase Congenital adrenal hyperplasia CYP11B1 Long-read sequencing
On-line přístup:	https://doi.org/10.1186/s12902-024-01748-5
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