# Response to Khoodoruth et al., “Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of Olmsted syndrome”

**Authors:** Travis Frantz, David Kirwin, Angela Crotty, Willis Lyford

PMC · DOI: 10.1016/j.jdcr.2024.12.013 · 2024-12-24

## Full-text entities

- **Genes:** TRPV3 (transient receptor potential cation channel subfamily V member 3) [NCBI Gene 162514] {aka FNEPPK2, OLMS, OLMS1, VRL3}
- **Diseases:** Olmsted syndrome (OMIM:614594), Cerebral palsy (MESH:D002547), intellectual disability (MESH:D008607)

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Source: https://tomesphere.com/paper/PMC11928991