✦ LIBER ✦

Case of epidermolytic palmoplantar keratoderma with knuckle pads

✍ Scribed by Masahiro HAYASHI; Hajime NAKANO; Daisuke SAWAMURA; Tamio SUZUKI

Book ID: 108578117
Publisher: John Wiley and Sons
Year: 2011
Tongue: French
Weight: 378 KB
Volume: 39
Category: Article
ISSN: 0385-2407
DOI: 10.1111/j.1346-8138.2011.01226.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation of keratin 9 in epiderm

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

✍ Lu, Yong ;Guo, Chenhong ;Liu, Qiji ;Zhang, Xiyu ;Cheng, Lin ;Li, Jiangxia ;Chen, 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB

Keratin-9 gene mutation in epidermolytic

Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family

✍ M. Li; L.J. Yang; H.-K. Hua; X.-H. Zhu; X.-Y. Dai 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

A Novel GJB2 Mutation p.Asn54His in a Pa

A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads

✍ Akiyama, Masashi; Sakai, Kaori; Arita, Ken; Nomura, Yukiko; Ito, Kei; Kodama, Ka 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 136 KB

A case of spontaneous mutation in the ke

A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma

✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB

## SUMMARY Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helic

Novel mutation p.Gly59Arg in GJB6 encodi

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss

✍ I. Nemoto-Hasebe; M. Akiyama; S. Kudo; A. Ishiko; A. Tanaka; K. Arita; H. Shimiz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 384 KB

Keratin 9 gene mutations in five Korean

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma

✍ Joo-Heung Lee; Kwang-Sung Ahn; Cha-Hui Lee; Seong-Jae Youn; Jong-Wook Kim; Dong- 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 1003 KB