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MUTATION DETAILS
Mutation name (according to HGVS guidelines) – DNA level:
Trivial name or rs number:
Mutation name (according to HGVS guidelines) – Protein level (if applicable):
Mutation type: Part of the gene:
Mutation result:
CORELATION
Inheritance: Age of the actual clinical description: Gender:
Other mutation identified in the patient – if applicabe: mutation name: Inheritance:
Ethnicity: General state of the patient at the time of diagnosis:
Age of the onset of clinical symoptoms:
significant amelioration visible: Significant progression of the disease (defined as non-healing lesions, extensive lesion’s formation, increase degree of disability, cachexia) Extension and localization of skin findings:
Blisters Relative inducibility of blisters Milia
Atrophic scarring Chronic wounds present for > 6 months
 
Bullae healing with: Scar Granulation tissue   Keratoderma Other
Extracutaneous involvement:
Anemia
Growth retardation
Oral cavity Gastrointestinal:
Genitourinary tract involvment Ocular findings Respiratory tract abnormalities
Pseudosyndactilia of hands
of feet
Fusion of adjactent fingers Fusion of adjactent toes
Cocon-like covering tissue of thin scars Squamous cell carcinoma Malignant melanoma
Immunofluorescence mapping Electron Microscopy
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