RECQL4
Associations
1Rothmund-Thomson syndrome
upin reviews1
1 study
Rothmund-Thomson syndrome
upin reviews1
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
Aging25 Jul 2025