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.

References:

[1]. D H Cao, et al. Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. Genet Mol Res. 2015 May 11;14(2):4757-66. [Content Brief]

[2]. L Van Maldergem, et al. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006 Feb;43(2):148-52. [Content Brief]

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