Baller-Gerold syndrome

Definition:

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.

Biomedical Dictionary

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