Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants
We identified two novel CNKSR2 variants in MRXSHG families, expanding the variant spectrum of CNKSR2, enriching MRXSHG-related phenotypes, and contributing to genetic counseling for MRXSHG patients.
Authors
- Rong Xiang (ORCID: https://orcid.org/0000-0002-5521-3615)
- Jie‐Yuan Jin (ORCID: https://orcid.org/0000-0003-3140-2216)
- Si‐Hua Chang
- Yi-Qiao Hu
- Xia Wang
- Run-Yan Wang
Institutions
- Central South University (CN)
- National Clinical Research (US)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1186/s13052-025-01877-0
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Central South University
- Natural Science Foundation of Hunan Province
- Xiangya Hospital, Central South University
- Key Research and Development Program of Liaoning Province