[Clinical and genetic analysis of a case with 2p23.2p22.1 duplication].
The duplication of PPP1CB and SOS1 genes within the 2p23.2p22.1 region can result in Noonan syndrome-like clinical manifestations such as short stature and reduced visual acuity. The duplication of the PPP1CB gene may be associated with the abnormal visual phenotype.
Authors
- Wei Liu (ORCID: https://orcid.org/0000-0003-2968-2888)
- Xiangyu Zhu (ORCID: https://orcid.org/0000-0003-2293-3293)
- Leilei Gu (ORCID: https://orcid.org/0000-0002-3878-7262)
- Jie Li (ORCID: https://orcid.org/0009-0006-6805-2239)
Institutions
- Nanjing Drum Tower Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240628-00359
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00