Associated Papers
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
The structural and functional characterization of human RecQ4 reveals insights into its helicase mechanism.
Kaiser S et al.
Nature Communications, 2017
Rothmund-Thomson syndrome.
Larizza L et al.
Orphanet Journal of Rare Diseases, 2010
20113479 (PubMed )
Supplement: 1750-1172-5-2-S1.PDF
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
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