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Paper Details

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
46
2018
BLM, BTRR, BTRR complex, Bloom Syndrome-like Disorder, Bloom syndrome, RMI1, TOP3A, TOP3A mutations, TopIII, cancer, erythematous photosensitive malar rash, growth deficiency, growth restriction, microcephalic dwarfism, microcephaly, mitochondrial, mitochondrial DNA, mitochondrial dysfunction, prenatal-onset, short stature, sister, topoisomerase III alpha
Author NameAffiliation
Clare V LoganMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
David A D ParryMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
Megan T Cho
Jaime Cruz-RojoHospital 12 Octubre
Gr??inne S GormanInstitute of Neuroscience, Newcastle University
Yasushi OkazakiIntractable Disease Research Center, Graduate School of Medicine, Juntendo University
Yasushi OkazakiIntractable Disease Research Center, Graduate School of Medicine, Juntendo University
Robert W TaylorInstitute of Neuroscience, Newcastle University
Hywel J WilliamsUCL Great Ormond Street Institute of Child Health
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Mehul T DattaniUCL Great Ormond Street Institute of Child Health
Andrew P JacksonMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
Andrew P JacksonMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
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Release 1.2