Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths
This study revealed that karyomapping is an efficient approach for identifying SCID. Through PGT-M with karyomapping linkage analysis, healthy babies were born to families carrying mutations in the SCID pathogenic gene.
Authors
- Yanchi Wang (ORCID: https://orcid.org/0000-0002-9783-9544)
- L. Y. Zhang (ORCID: https://orcid.org/0009-0000-5324-9932)
- Haixia Jin (ORCID: https://orcid.org/0000-0003-0116-9070)
- Yidong Liu
- Wenbin Niu (ORCID: https://orcid.org/0000-0001-5507-1592)
- Yingpu Sun
- Wenyan Song (ORCID: https://orcid.org/0000-0003-1851-4176)
- Lei Feng (ORCID: https://orcid.org/0000-0003-2731-1194)
- Hao Shi (ORCID: https://orcid.org/0000-0002-5087-5214)
- Xiao Bao
- Bei Bu
Institutions
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1186/s13023-024-03525-y
- Citations
- 3
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 10.48
Funders
- National Natural Science Foundation of China
- Zhengzhou University