Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency
Our study suggests that the integrated long-range PCR-based NGS and T-LRS seem to be the most reliable and accurate method for 11β-OHD genetic diagnosis and carrier sequencing.
Authors
- Zhenhong Zhang (ORCID: https://orcid.org/0000-0001-9141-9621)
- Huihui Tian
- Xiaoli Zhang (ORCID: https://orcid.org/0000-0002-3223-5328)
- Yanxiang Wang (ORCID: https://orcid.org/0000-0001-9124-071X)
- Xinchen Jin
- Jidong Liu (ORCID: https://orcid.org/0000-0002-1279-0279)
- Lulu Dai (ORCID: https://orcid.org/0000-0002-5203-1701)
- Mengxue Li (ORCID: https://orcid.org/0000-0003-1315-4706)
- Ling Jiang (ORCID: https://orcid.org/0009-0004-1072-3461)
Institutions
- Shandong University of Traditional Chinese Medicine (CN)
- Shandong University (CN)
- Jinan University (CN)
- University of Jinan (CN)
- Jinan Infectious Disease Hospital (CN)
- Qilu Hospital of Shandong University (CN)
Publication Details
- Journal
- BMC Endocrine Disorders
- Published
- 2024-10-14
- DOI
- https://doi.org/10.1186/s12902-024-01748-5
- Citations
- 2
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- National Natural Science Foundation of China
- Chinese Academy of Medical Sciences