[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].
There is strong clinical and genetic heterogeneity in CS. Early genetic testing may facilitate accurate diagnosis. The detection of novel variants has expanded the phenotypic spectrum of CS and the mutational spectrum of the CHD7 gene.
Authors
- Shiyue Mei (ORCID: https://orcid.org/0000-0002-3092-5915)
- Jinghui Kong
- Yaodong Zhang (ORCID: https://orcid.org/0000-0003-0014-025X)
- Chongfen Chen
- Lili Ge
- Zhiyi Xia
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230723-00012
- Primary Topic
- Congenital Ear and Nasal Anomalies
- Type
- article