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Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family

โœ Scribed by S. Malik; H. Sudoyo; T. Sasmono; S. Winata; I. N. Arhya; P. Pramoonjago; W. Sudana; S. Marzuki


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
314 KB
Volume
48
Category
Article
ISSN
1435-232X

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Inherited palmoplantar keratoderma and s
โœ L. Martin; A. Toutain; C. Guillen; M. Haftek; M.C. Machet; C. Toledano; B. Arbei ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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