Rothmund-Thomson syndrome

1. RECQL4 is associated with Rothmund-Thomson syndrome.

   “Pathogenic mutations on BLM, WRN, and RECQL4 are associated with several pathological conditions, namely Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS).”

   ReviewPathogenic mutations

   An overview of RecQ helicases and related diseases

   Aging·25 Jul 2025

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