[Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].
The fetus was diagnosed with CSS type 2, and the heterozygous c.553C>T (p.Gln185Ter) variant of the ARID1A gene probably underlay its brain malformations.
Authors
- Pai Zhang (ORCID: https://orcid.org/0000-0001-5883-5084)
- Yuqiong Chai
- Yanan Wang (ORCID: https://orcid.org/0000-0002-1504-8598)
- Jieqiong Wang (ORCID: https://orcid.org/0000-0002-0242-2712)
- Jiapei Jin
- Yaxin Wang (ORCID: https://orcid.org/0000-0002-0170-4881)
Institutions
- Luoyang Orthopedic-Traumatological Hospital of Henan Province (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-10-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20231214-00322
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00