Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis
Preimplantation genetic testing using STR linkage analysis can rescue cases with autosomal recessive inheritance when only one mutation is found in the putative gene, while reanalysis of high-coverage WES by optimized updated bioinformatics should always be considered in addition to whole genome sequencing.
Authors
- Zhu Wei Lim (ORCID: https://orcid.org/0000-0001-6659-2158)
- Ming‐Chih Ho (ORCID: https://orcid.org/0000-0003-3660-1062)
- Wan‐Ju Wu (ORCID: https://orcid.org/0000-0002-5745-9344)
- Yin Chu
- Gwo‐Chin Ma (ORCID: https://orcid.org/0000-0002-4925-7101)
- Mei‐Hui Lee (ORCID: https://orcid.org/0000-0002-4642-0831)
- Jin‐Chung Shih (ORCID: https://orcid.org/0000-0002-0296-4327)
- Ting‐Yu Chang (ORCID: https://orcid.org/0000-0003-4642-7352)
- Ming Chen (ORCID: https://orcid.org/0000-0001-5076-2917)
- Shun‐Ping Chang
- Wen‐Hsiang Lin
- Dong-Jay Lee
Institutions
- National Taiwan University (TW)
- China Medical University (TW)
- China Medical University Hospital (TW)
- Changhua Christian Hospital (TW)
- Bristol-Myers Squibb (Switzerland) (CH)
Publication Details
- Journal
- Taiwanese Journal of Obstetrics and Gynecology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.tjog.2024.03.026
- Citations
- 3
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 3.45
Funders
- Changhua Christian Hospital