Associated Papers
From loss of Ca2+-influx to altered organelle temperature and energy failure: A neonatal-lethal TRPV4 mutant (L618P).
Mishra S et al.
Life Sciences, 2025
Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome.
Oktem A et al.
Clinical and Experimental Dermatology, 2025
The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.
Mo R et al.
Journal of Dermatological Science, 2024
Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma.
Hao Y et al.
Frontiers in Oncology, 2024
Pathogenesis and management of TRPV3-related Olmsted syndrome.
Lu A et al.
Frontiers in Genetics, 2024
Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects.
Jain A et al.
Biochemical and Biophysical Research Communications, 2022
Olmsted Syndrome: Response to erlotinib therapy and genotype/phenotype correlation.
Noakes R
The Australasian Journal of Dermatology, 2021
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.
Zhong W et al.
The Journal of Investigative Dermatology, 2021
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.
Choi JY et al.
Yonsei Medical Journal, 2018
Expanding the Phenotypic Spectrum of Olmsted Syndrome.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2015
TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.
Arias-Berrios G et al.
Pediatric Dermatology, 0
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