Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1995 ◽  
Vol 4 (10) ◽  
pp. 1875-1881 ◽  
Author(s):  
M.K. Shamsher ◽  
H.A. Navsaria ◽  
H.P. Stevens ◽  
R.C. Ratnavel ◽  
P.E. Purkis ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Novel Mutations ◽  
Keratin 16

scholarly journals Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

2002 ◽  
Vol 119 (4) ◽  
pp. 966-971 ◽  
Author(s):  
Ana Terron-Kwiatkowski ◽  
David J. Atherton ◽  
W.H. Irwin McLean ◽  
Alan D. Irvine ◽  
Amy S. Paller ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Novel Mutations ◽  
Keratin 1

scholarly journals PIGO deficiency: palmoplantar keratoderma and novel mutations

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Marie-Anne Morren ◽  
◽  
Jaak Jaeken ◽  
Gepke Visser ◽  
Isabelle Salles ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Novel Mutations

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

2000 ◽  
Vol 9 (3) ◽  
pp. 170-177 ◽  
Author(s):  
F. J. D. Smith ◽  
M. P. Fisher ◽  
E. Healy ◽  
J. L. Rees ◽  
J. M. Bonifas ◽  
...  
Keyword(s):  
Protein Expression ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Expression Studies ◽  
Pachyonychia Congenita

Novel keratin 16 mutation in a Chinese family with focal palmoplantar keratoderma

2020 ◽  
Author(s):  
Yuanyuan Zhang ◽  
Yingda Wu ◽  
Weixue Jia ◽  
Wenrui Li ◽  
Ping Cheng ◽  
...  
Keyword(s):  
Chinese Family ◽  
Palmoplantar Keratoderma ◽  
Keratin 16

scholarly journals Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

2019 ◽  
Vol 181 (3) ◽  
pp. 618-620
Author(s):  
M. Zamiri ◽  
N.J. Wilson ◽  
E.A. O'Toole ◽  
F.J.D. Smith
Keyword(s):  
Palmoplantar Keratoderma ◽  
Novel Mutations

A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma

2011 ◽  
Vol 165 (5) ◽  
pp. 1145-1147 ◽  
Author(s):  
L-H. Cao ◽  
Y. Luo ◽  
W. Wen ◽  
W-L. Liu ◽  
L. Jiang ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Pachyonychia Congenita

Novel mutations inDSG1causing striate palmoplantar keratoderma

2009 ◽  
Vol 34 (2) ◽  
pp. 224-228 ◽  
Author(s):  
D. Hershkovitz ◽  
J. Lugassy ◽  
M. Indelman ◽  
R. Bergman ◽  
E. Sprecher
Keyword(s):  
Palmoplantar Keratoderma ◽  
Novel Mutations
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