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Paper Details

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
20
2019
-, CPT, RAD51, SPONASTRIME Dysplasia, SPONASTRIME dysplasia, Scoliosis, Skeletal Dysplasia, TONSL, TONSL variants, Tonsl, Tonsl-/-, Tonsoku-like DNA repair protein, autosomal-recessive spondyloepimetaphyseal dysplasia, camptothecin, childhood cataracts, coxa vara, embryonic lethality, humans, hypogammaglobulinemia, hypomorphic TONSL, immunologic and hematologic abnormalities, metaphyseal, metaphyseal striations, mice, midface hypoplasia, murine, neutrophils, short dental roots, short stature, skeletal dysplasia, spinal abnormalities, spine (spondylar) abnormalities, spondylometaphyseal dysplasia, subject-derived cell lines, tonsl-/-, wild-type (WT, zebrafish
Author NameAffiliation
Jennifer B PhillipsInstitute of Neuroscience, University of Oregon
Jeremy WegnerInstitute of Neuroscience, University of Oregon
John R SeavittBaylor College of Medicine
David A D ParryMedical Research Council Institute of Genetics & Molecular Medicine, the University of Edinburgh, Western General Hospital
Alison A BertuchBaylor College of Medicine
Dawn EarlSeattle Children's Hospital
Michael J BamshadSeattle Children's Hospital, University of Washington
Michael J BamshadSeattle Children's Hospital, University of Washington
Harshavardhan DoddapaneniBaylor College of Medicine
Harshavardhan DoddapaneniBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Weimin BiBaylor College of Medicine
John H PostlethwaitInstitute of Neuroscience, University of Oregon
Monte WesterfieldInstitute of Neuroscience, University of Oregon
Monte WesterfieldInstitute of Neuroscience, University of Oregon
Anne M DickinsonBaylor College of Medicine
Anne M DickinsonBaylor College of Medicine
Arthur L BeaudetBaylor College of Medicine
Andrew P JacksonMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Andrew P JacksonMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
John C CareyUniversity of Utah
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