Bloom syndrome

1. BLM is associated with Bloom 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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