[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].
PGT-M had helped the couple carrying SLC22A5 gene variant to have a healthy offspring and effectively blocked the transmission of PCD in this family.
Authors
- Min Guo (ORCID: https://orcid.org/0000-0002-6434-1934)
- Qiaomiao Zhou
- Renliang Huang (ORCID: https://orcid.org/0000-0003-0797-3473)
- Zhi‐You Zhou (ORCID: https://orcid.org/0000-0001-5181-0642)
- Duo Zhou
- Jie Deng (ORCID: https://orcid.org/0009-0008-0800-5961)
Institutions
- Hainan Modern Women and Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240902-00466
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article