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Rothmund-Thomson Syndrome

Background

Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the RECQL4 helicase gene on 8q24.
Key features include early photosensitivity and poikilodermatous skin changes, juvenile cataracts, skeletal dysplasias, and a predisposition to osteosarcoma and skin cancer.

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