Cells cultured from patients with this disorder exhibit low activity for the nucleotide excision repair process. This autosomal recessive genetic disease includes marked sensitivity to sunlight (Ultra voilet light) with subsequent formation of multiple skin cancers and premature death, the disorder is –
Correct Answer: Xeroderma pigmentosa
Description: This patient has -
Defect in nucleotide excision repair
Increased sensitivity to sunlight (photosensitivity)
Increased susceptibility to skin cancer
Premature death
All suggests the diagnosis of Xeroderma pigmentosa.
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