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

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

2010 ◽  
Vol 162 (4) ◽  
pp. 875-879 ◽  
Author(s):  
M.C. Bolling ◽  
R.S. Bladergroen ◽  
M.A.M. Van Steensel ◽  
M. Willemsen ◽  
M.F. Jonkman ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

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

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

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

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
Sign in / Sign up

Export Citation Format

Share Document