Novel TRPV3 loss-of-function mutation in Olmsted syndrome with attenuated phenotype
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Publisher
Elsevier BV
Reference7 articles.
1. Keratodermia palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location;Olmsted;Am J Dis Child,1927
2. Olmsted syndrome: clinical, molecular and therapeutic aspects;Duchatelet;Orphanet J Rare Dis,2015
3. Exome sequencing reveals mutations in trpv3 as a cause of Olmsted syndrome;Lin;Am J Hum Genet,2012
4. Mutations in PERP cause dominant and recessive keratoderma;Duchatelet;J Invest Dermatol,2019
5. Use of epidermal growth factor receptor inhibitor erlotinib to treat palmoplantar keratoderma in patients with Olmsted syndrome caused by TRPV3 mutations;Greco;JAMA Dermatol,2020
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