Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus.

Maria WestinElham RekabdarLena BlomstrandPer KlintbergMats JontellJairo Robledo-Sierra

Published in: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology (2017)

We describe a novel heterozygous missense mutation in the keratin-4 gene of a Swedish family with white sponge nevus. Our results support the notion that mutations in keratin-4 and keratin-13 are the underlying cause of white sponge nevus.

Keyphrases

bioinformatics analysis
genome wide
gene expression
copy number
genome wide analysis