Associated Papers
Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W et al.
Molecular and Cellular Biology, 2021
Molecular Mechanisms of the RECQ4 Pathogenic Mutations.
Xu X et al.
Frontiers in Molecular Biosciences, 2021
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.
Cao DH et al.
Genetics and Molecular Research : Gmr, 2015
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L et al.
Journal of Medical Genetics, 2006
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Siitonen HA et al.
Human Molecular Genetics, 2003
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Wang LL et al.
Journal of the National Cancer Institute, 2003
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