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

2003 ◽  
Vol 120A (3) ◽  
pp. 345-349 ◽  
Author(s):  
Yong Lu ◽  
Chenhong Guo ◽  
Qiji Liu ◽  
Xiyu Zhang ◽  
Lin Cheng ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Knuckle Pads

A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly

2011 ◽  
Vol 21 (5) ◽  
pp. 675-679 ◽  
Author(s):  
Zhen-Fang Du ◽  
Wei Wei ◽  
Yi-Fan Wang ◽  
Xiao-Ling Chen ◽  
Chun-Yue Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Knuckle Pads

Novel mutation p.Gly59Arg inGJB6encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss

2009 ◽  
Vol 161 (2) ◽  
pp. 452-455 ◽  
Author(s):  
I. Nemoto-Hasebe ◽  
M. Akiyama ◽  
S. Kudo ◽  
A. Ishiko ◽  
A. Tanaka ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Knuckle Pads ◽  
Connexin 30

Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression

2009 ◽  
Vol 19 (2) ◽  
pp. 114-118 ◽  
Author(s):  
Andrea Codispoti ◽  
Enrico Colombo ◽  
Loredana Zocchi ◽  
Valeria Serra ◽  
Ginevra Pertusi ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Knuckle Pads

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

2007 ◽  
Vol 127 (6) ◽  
pp. 1540-1543 ◽  
Author(s):  
Masashi Akiyama ◽  
Kaori Sakai ◽  
Ken Arita ◽  
Yukiko Nomura ◽  
Kei Ito ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Palmoplantar Keratoderma ◽  
Gjb2 Mutation ◽  
Knuckle Pads

Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads

2007 ◽  
Vol 45 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Y.-S. Sheen ◽  
C.-Y. Chu ◽  
P.-J. Lin ◽  
S.-H. Liaw ◽  
H.-C. Chiu ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Knuckle Pads

scholarly journals A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis

2018 ◽  
Vol 4 (9) ◽  
pp. 950-952
Author(s):  
Carla Stephan ◽  
Edith Hanna ◽  
Georges Nemer ◽  
Ossama Abbas ◽  
Mazen Kurban
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Digital Clubbing ◽  
Unusual Phenotype

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma

2004 ◽  
Vol 150 (4) ◽  
pp. 647-651 ◽  
Author(s):  
X-H. He ◽  
X-N. Zhang ◽  
W. Mao ◽  
H-P. Chen ◽  
L-R. Xu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Palmoplantar Keratoderma

A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma

2004 ◽  
Vol 296 (8) ◽  
pp. 375-378 ◽  
Author(s):  
Atsushi Kon ◽  
Kae Itagaki ◽  
Kozo Yoneda ◽  
Keiichi Takagaki
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Japanese Family

Novel mutation in the DSG1 gene causes autosomal‐dominant striate palmoplantar keratoderma in a large Syrian family

2019 ◽  
Vol 83 (6) ◽  
pp. 472-476
Author(s):  
Batoul Abi Zamer ◽  
Mona Mahfood ◽  
Batoul Saleh ◽  
Abdullah Fahd Al Mutery ◽  
Abdelaziz Tlili
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Palmoplantar Keratoderma
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