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Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants

Year: 2024
Type: article
Study design: Case Report
Abstract: We report two unrelated patients with new pathogenic variants in the FAM83G gene, supporting the causal link to previously identified families with recessive hereditary palmoplantar keratoderma. Although structural changes of the hairs are a key feature of FAM83G-associated disease, a complete loss of the gene, seen in one of the patients, shows normal hair and does not support this part of the clinical phenotype.
DOI: 10.1093/bjd/ljae419
Authors: Marike W van Gisbergen, S Vanya J Rossel, Tom E J Theunissen, Renske Janssen, Tariraishe Kaseke, Jasper J van der Smagt, Peter M Steijlen, Maaike Vreeburg, Antoni H Gostynski, Michel van Geel
Language: English
Subfield: Genetics
Open Access status: hybrid
Estimated APC paid: $5,008
OpenAlex ID: W4403748699
FWCI: 0.98
Cites: 8
Cited by: 4
Related to: 10