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| http://dx.doi.org/10.1002/ajmg.a.10057 | DOI Listing |
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Chromosomes are copied from thousands of origins. At each origin, two replicative DNA helicases are first assembled, then activated to begin unwinding DNA. Several replication proteins are subsequently recruited to the active helicase, forming a replisome.
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Article Synopsis
- * Diagnosis often relies on specific clinical features, but atypical presentations can lead to missed or delayed diagnoses, as seen in the five patients described.
- * Three patients with these atypical presentations developed osteosarcoma, emphasizing the need for vigilance in recognizing unusual signs of Rothmund-Thomson syndrome to ensure timely cancer monitoring.