Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene
- DOI
- 10.3389/fgene.2026.1932117
- Published
- 2026-08-31
- Container
- Frontiers in Genetics
- Publisher
- Frontiers Media SA
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.3389/fgene.2026.1932117,
title = {Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C\>T in the CHD gene},
author = {Qiong-yu Wang and Jing-jing Huang and Fu-chun Wang and Jing-wei He},
year = {2026},
journal = {Frontiers in Genetics},
doi = {10.3389/fgene.2026.1932117},
url = {https://doi.org/10.3389/fgene.2026.1932117}
}RIS
TY - JOUR TI - Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene AU - Qiong-yu Wang AU - Jing-jing Huang AU - Fu-chun Wang AU - Jing-wei He PY - 2026 JO - Frontiers in Genetics DO - 10.3389/fgene.2026.1932117 UR - https://doi.org/10.3389/fgene.2026.1932117 ER -
APA
Wang, Q., Huang, J., Wang, F., & He, J. (2026). Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene. Frontiers in Genetics. https://doi.org/10.3389/fgene.2026.1932117
Source records
- crossref · retrieved 2026-09-25T10:44:53.439Z