Case of Kindler syndrome resulting from mutation in the FERMT1 gene.
Makoto
M
Wada
Koji
K
Masuda
Daisuke
D
Tsuruta
Katsuto
K
Tamai
Joey E
JE
Lai-Cheong
John A
JA
McGrath
Norito
N
Katoh
D001768:Blister / Q000175:diagnosis* / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008854:Microscopy, Electron; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010510:Periodontal Diseases / Q000175:diagnosis* / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000175:diagnosis* / Q000235:genetics*
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins