Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

2017 ◽  
Vol 42 (3) ◽  
pp. 316-319 ◽  
Author(s):  
N. Dinani ◽  
M. Ali ◽  
L. Liu ◽  
J. McGrath ◽  
J. Mellerio
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma

scholarly journals Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

2013 ◽  
Vol 93 (2) ◽  
pp. 330-335 ◽  
Author(s):  
Diana C. Blaydon ◽  
Lisbet K. Lind ◽  
Vincent Plagnol ◽  
Kenneth J. Linton ◽  
Francis J.D. Smith ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Water Channel ◽  
Palmoplantar Keratoderma ◽  
Channel Protein ◽  
Water Channel Protein

Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5

2018 ◽  
Vol 46 (3) ◽  
pp. e104-e106
Author(s):  
Yoshihiro Wada ◽  
Minori Kusakabe ◽  
Makoto Nagai ◽  
Yasutomo Imai ◽  
Kiyofumi Yamanishi
Keyword(s):  
Missense Mutation ◽  
Extracellular Loop ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5 ◽  
Japanese Case

Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

2009 ◽  
Vol 161 (3) ◽  
pp. 692-694 ◽  
Author(s):  
M. Zamiri ◽  
F.J.D. Smith ◽  
L.E. Campbell ◽  
L. Tetley ◽  
R.A.J. Eady ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma

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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