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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Mutat Res. 2012 Dec 28;752(2):138–152. doi: 10.1016/j.mrrev.2012.12.004

Figure 7. Clinically relevant missense mutations in RECQL4 helicase responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO.

Figure 7

See text for details. For comprehensive listing of RECQL4 mutations, see [15]. RECQL4-R1021W is associated with both RTS and BGS. Region of RECQL4 shown to interact with SLD2 [128] is shown.