A Novel FAM83G Variant from Palmoplantar Keratoderma Patient Disrupts WNT Signalling
Date: 08/01/2024
Glennie L, Solà MC, Xunclà M, Español GA, Garcia-Arumí E, Tizzano EF, Wood NT, Macartney TJ, Lasa-Aranzasti A, Sapkota GP.
Here, a novel homozygous variant (c.794G>C, p.Arg265Pro) in the FAM83G gene, identified by whole exome sequencing in a 60-year-old female patient with PPK, is reported. The patient exhibited alterations in the skin of both hands and feet, dystrophic nails, thin, curly and sparse hair, long upper eyelid eyelashes, and poor dental enamel.
