Homozygous Microdeletion Involving Exon 1 of <scp><i>ERCC8</i></scp> and <scp><i>NDUFAF2</i></scp> With Uniparental Isodisomy of Chromosome 5
The results imply that ES in combination with RNA-seq could be a powerful method for the detection of underlying factors responsible for rare genetic conditions, such as UPD.
Authors
- Kazuhiko Yamada (ORCID: https://orcid.org/0000-0003-4658-346X)
- Kaori Yamoto (ORCID: https://orcid.org/0000-0001-6001-6395)
- Sachiko Miyamoto (ORCID: https://orcid.org/0000-0003-2124-4795)
- Kenji Shimizu (ORCID: https://orcid.org/0000-0002-2732-8722)
- Mitsuko Nakashima (ORCID: https://orcid.org/0000-0001-7941-1774)
- Hirotomo Saitsu (ORCID: https://orcid.org/0000-0003-0723-0960)
Institutions
- Hamamatsu University School of Medicine (JP)
- Shizuoka Children's Hospital (JP)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/mgg3.70037
- Citations
- 2
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Takeda Science Foundation
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science
- Hospital Universiti Sains Malaysia