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?

Question

Accepted Answer

Werner syndrome (WS)

Answer

Xeroderma pigmentosum (XP)

Answer

Rothmund-Thomson syndrome

Answer

Bloom syndrome (BS)

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?

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