Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

Br J Dermatol. 2018 Jun;178(6):1455-1457. doi: 10.1111/bjd.16502. Epub 2018 Apr 16.

Authors

D Vodo^{1

2}, O Sarig¹, D Jeddah², N Malchin¹, M Eskin-Schwarz¹, J Mohamad^{1

2}, T Rabinowitz³, I Goldberg¹, N Shomron^{3

4}, Z Khamaysi⁵, R Bergman⁵, E Sprecher^{1

2}

Affiliations

¹ Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
² Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel.
³ Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
⁴ Variantyx Ltd, Framingham, MA, U.S.A.
⁵ Department of Dermatology, Rambam Medical Center, Haifa, Israel.

PMID: 29494755
DOI: 10.1111/bjd.16502

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Antigens, Ly / genetics*
Consanguinity
Female
Homozygote
Humans
Keratoderma, Palmoplantar / genetics*
Mutation / genetics*
Phenotype
Urokinase-Type Plasminogen Activator / genetics*

Substances

Antigens, Ly
SLURP1 protein, human
Urokinase-Type Plasminogen Activator