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xfe progeroid syndrome
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ERCC4
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia
Cancer Gene Census
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ERCC4
Somatic tumors
Tumor types germline
skin basal cell, skin squamous cell, melanoma
Cancer Syndrom
xeroderma pigmentosum (F)
Translocation partner
Name
excision repair cross-complementing rodent repair deficiency, complementation group 4
Chromosome banding
16p13.3-p13.13
Cancer molecular gen.
Rec
Mutation type
Mis, N, F
Other syndrome disease
Definition
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Pathways
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