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The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness

✍ Scribed by Michael B. Petersen; Maria Grigoriadou; Maria Koutroumpe; Haris Kokotas


Book ID
116566328
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
279 KB
Volume
76
Category
Article
ISSN
0165-5876

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Inherited palmoplantar keratoderma and s
✍ L. Martin; A. Toutain; C. Guillen; M. Haftek; M.C. Machet; C. Toledano; B. Arbei πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 494 KB

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