[Genetic analysis of a child with Congenital insensitivity to pain due to compound heterozygous variants of SCN9A gene].
The child was diagnosed with CIP due to the compound heterozygous variants of the SCN9A gene. Above finding has enabled genetic counselling and reproductive guidance for this family.
Authors
- Yunqiang Liu (ORCID: https://orcid.org/0000-0001-7691-7630)
- Yuan Yang
- Xiaolan Tan
Institutions
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-11-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240119-00055
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00