scholarly journals Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma

2018 ◽  
Vol 44 (5) ◽  
pp. 528-534 ◽  
Author(s):  
F. J. D. Smith ◽  
I. M. Kreuser‐Genis ◽  
C. S. Jury ◽  
N. J. Wilson ◽  
A. Terron‐Kwiatowski ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Recurrent Mutations ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

scholarly journals A novel mutation resulting in keratin 1–linked palmoplantar keratoderma with epidermolytic ichthyosis

2020 ◽  
Vol 6 (10) ◽  
pp. 1085-1087
Author(s):  
Taylor Gray ◽  
Christopher White ◽  
Maheera Farsi ◽  
Joseph Dyer ◽  
Richard Miller
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

2009 ◽  
Vol 160 (2) ◽  
pp. 446-449 ◽  
Author(s):  
G. Grimberg ◽  
I. Hausser ◽  
F.B. Müller ◽  
K. Wodecki ◽  
C. Schaffrath ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Recurrent Mutations ◽  
Keratin 1

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 Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

2001 ◽  
Vol 116 (4) ◽  
pp. 606-609 ◽  
Author(s):  
Sarah J. Hatsell ◽  
Irene M. Leigh ◽  
David P. Kelsell ◽  
Robin A. Eady ◽  
Lena Wennerstrand ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Palmoplantar Keratoderma ◽  
Site Mutation ◽  
Keratin 1

scholarly journals Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin

2006 ◽  
Vol 126 (3) ◽  
pp. 607-613 ◽  
Author(s):  
Ana Terron-Kwiatkowski ◽  
Maurice A.M. van Steensel ◽  
Michel van Geel ◽  
E. Birgitte Lane ◽  
W.H. Irwin McLean ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Keratin 1

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

2004 ◽  
Vol 150 (6) ◽  
pp. 1096-1103 ◽  
Author(s):  
A. Terron-Kwiatkowski ◽  
A. Terrinoni ◽  
B. Didona ◽  
G. Melino ◽  
D.J. Atherton ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Keratin 1
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