Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.
Martignago
B C F
BC
Lai-Cheong
J E
JE
Liu
L
L
McGrath
J A
JA
Cestari
T F
TF
D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome
C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins