Rothmund-Thomson Syndrome-like RECQL4 truncating mutations cause a haploinsufficient low bone mass phenotype in mice
W. Castillo-Tandazo, A. E. Frazier, N. A. Sims, M. Smeets, C. R. Walkley
This study shows that truncating RECQL4 mutations in mice cause low bone mass and reduced cortical bone thickness, highlighting RECQL4 gene dosage as a regulator of bone mass.
bioRxiv · Nov 11, 2020Cancer Biology