Congenital bullous poikiloderma (Kindler syndrome) - new mutation.
Larissa
L
Lennartz
Cristina
C
Has
Percy
P
Lehmann
D000293:Adolescent; D001768:Blister / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; 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