Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome
To the Editor: Olmsted syndrome (OS) is a rare genodermatosis, with limited cases reported globally, primarily characterized by progressive palmoplantar keratoderma and keratotic plaques, and is linked to mutations in the TRPV3 gene on chromosome 17p13.2.1,2 We read with great interest the case repo...
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2025
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| Online Access: | http://dx.doi.org/10.1016/j.jdcr.2024.10.038 https://www.sciencedirect.com/science/article/pii/S2352512624005034 http://hdl.handle.net/10576/65148 |
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