Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

J Med Genet 43:148-52 (2006)
DOI:10.1136/jmg.2005.031781

Yin J, Kwon YT, Varshavsky A, Wang W

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

Hum Mol Genet 13:2421-30 (2004)
DOI:10.1093/hmg/ddh269