Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family. The RECQL4 plays a role in the initiation of replication and in several DNA repair pathways.
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
タイトル
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
