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Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

โœ Scribed by Kelsell, David P; Wilgoss, Amanda L; Richard, Gabriela; Stevens, Howard P; Munro, Colin S; Leigh, Irene M

Book ID
110024905
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
186 KB
Volume
8
Category
Article
ISSN
1018-4813

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Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
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Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome
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We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratin