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    SubjectsPathologyRothmund-Thomson Syndrome (RECQL4)
    Para-clinicalPathology

    Rothmund-Thomson Syndrome (RECQL4)

    1 MCQs in Pathology for NEET PG

    1 Medium
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    Sample Questions

    medium

    A 6-year-old girl presents with progressive reticulated hyperpigmentation and hypopigmentation with telangiectasia affecting the face, buttocks, and extensor surfaces. She has short stature, sparse eyebrows and eyelashes, and a history of juvenile cataracts. Genetic testing confirms biallelic loss-of-function mutations in the gene located at the locus marked **A** in the diagram. Which of the following best explains the pathophysiologic basis for her increased susceptibility to osteosarcoma and cutaneous squamous cell carcinoma?

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