Associated Papers
A scalable approach for genomic-first rare disorder detection in a healthcare-based population.
Torene RI et al.
American Journal of Human Genetics, 2025
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.
Zhang J et al.
Frontiers in Medicine, 2025
The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.
Mo R et al.
Journal of Dermatological Science, 2024
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.
Zhong W et al.
The Journal of Investigative Dermatology, 2021
A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.
Yuan P et al.
Journal of Assisted Reproduction and Genetics, 2020
Select a paper to view details