[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].
The four children were all diagnosed with PMS by genetic testing. Above finding has enriched the phenotypic and mutational spectrum of PMS, and provided a basis for clinical diagnosis and genetic counseling for their families.
Authors
- Chunxiao Han
- Danyan Zhuang
- Liyun Tian
- Lulu Yan (ORCID: https://orcid.org/0000-0002-3402-7637)
- Yingwen Liu (ORCID: https://orcid.org/0000-0001-9315-6845)
- Yan He (ORCID: https://orcid.org/0000-0001-7346-6758)
- Haibo Li (ORCID: https://orcid.org/0000-0002-3535-8219)
- Yuxin Zhang (ORCID: https://orcid.org/0000-0001-7224-2533)
Institutions
- Ningbo Center for Disease Control and Prevention (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230819-00077
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article