Article

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

2024-03-14

Abstract excerpt

<h4>Purpose: </h4> 11β-hydroxylase deficiency (11β-OHD), caused by homozygosity or compound heterozygosity CYP11B1 mutations, 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 structural variants (SVs), the conventional approach to gene testing for 11β-OHD is facing challenges. The study aime...

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Literature Corpus work: dedba504-710d-5be4-acf7-763b512682fa
DOI: 10.21203/rs.3.rs-4056585/v1

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