An 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age.What is the probable diagnosis which is due to defective nucleotide excision repair?
An 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age.What is the probable diagnosis which is due to defective nucleotide excision repair?
π‘ Explanation
An 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age.What is the probable diagnosis which is due to defective nucleotide excision repair?
β Correct Answer: B. Xeroderma pigmentosum (XP)
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