Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort
Our study provides a comprehensive characterization of auditory, speech and systemic phenotypes in PTPN11-related Noonan spectrum disorders and demonstrates that cochlear implantation is highly effective for severe-to-profound hearing loss. These findings emphasize the value of early genetic diagnosis and emphasize the importance of coordinated, interdisciplinary management.
Authors
- Wenjing Yang (ORCID: https://orcid.org/0000-0002-9929-5480)
- Xiaoyu Xu (ORCID: https://orcid.org/0000-0001-8496-949X)
- Baoling Kang
- Yuan Li
- Yan Li (23143)
- Qingling Bi
- Guanghan Li
- Yong Lv
- Yanan Zhai
- Shufang Liu
- Zhongyan Chen
- Yang Liu
- Jianfeng Liu
Institutions
- China-Japan Friendship Hospital (CN)
Publication Details
- Journal
- European Archives of Oto-Rhino-Laryngology
- Published
- 2026-03-05
- DOI
- https://doi.org/10.1007/s00405-026-10056-8
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.00