Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Bedoukian EC, Rentas S, Skraban C, Shao Q, Treat J, Laird DW, Sullivan KE. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Mol Genet Genomic Med. 2021 02; 9(2):e1574.

View in: PubMed

subject areas

Adult
Cells, Cultured
Deafness
Female
Frameshift Mutation
Humans
Keratinocytes
Keratoderma, Palmoplantar
Mutation, Missense
Phenotype
Protein Transport

authors with profiles

Kathleen Sullivan, APRN, PMHCNS-BC

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