Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Ori
O
Eytan
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Dana
D
Fuchs-Telem
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Baruch
B
Mevorach
Department of Dermatology, Rambam Medical Center, Haifa, Israel.
Margarita
M
Indelman
Department of Dermatology, Rambam Medical Center, Haifa, Israel.
Reuven
R
Bergman
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Ofer
O
Sarig
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Ilan
I
Goldberg
Schulich Faculty of Chemistry, Technion-Israel Institute of Technology, Technion City, Haifa, Israel.
Noam
N
Adir
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel. Electronic address: elisp@tasmc.health.gov.il.
Eli
E
Sprecher
D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D018859:Hair Follicle / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D015603:Keratinocytes / Q000166:cytology; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D007642:Keratosis / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome; D050916:TRPV Cation Channels / Q000235:genetics*
D050916:TRPV Cation Channels; C459445:TRPV3 protein, human