A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay
In conclusion, this study identified a novel genetic variant, c.7104 + 6T > A in <i>ABCA12</i>, as the cause of ARCI in a fetus, thereby enriched the known <i>ABCA12</i> mutation spectrum.
Authors
- Shengmin Zhang (ORCID: https://orcid.org/0000-0002-3015-1315)
- Huiqing Ding (ORCID: https://orcid.org/0000-0001-5175-3617)
- Yubo Shi (ORCID: https://orcid.org/0000-0002-4071-2059)
- Rui Zhou (ORCID: https://orcid.org/0000-0003-3249-9670)
- Xiang Huang (ORCID: https://orcid.org/0000-0002-6834-6564)
- Linyan Zhu (ORCID: https://orcid.org/0000-0003-3846-6298)
- Lianxiao Zhang
- Mei Chen
Institutions
- Ningbo University (CN)
- Ningbo First Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-12-19
- DOI
- https://doi.org/10.3389/fped.2024.1505924
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00