المؤلفون: Mihalic Mosher T; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, 43205, USA. theresa.mihalicmosher@nationwidechildrens.org.; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA. theresa.mihalicmosher@nationwidechildrens.org.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA. theresa.mihalicmosher@nationwidechildrens.org., Zygmunt DA; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, 43205, USA., Koboldt DC; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA., Kelly BJ; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, 43205, USA., Johnson LR; Maternal-Fetal Medicine, Miami Valley Hospital, Dayton, OH, 45409, USA., McKenna DS; Maternal-Fetal Medicine, Miami Valley Hospital, Dayton, OH, 45409, USA., Hood BC; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, 43205, USA., Hickey SE; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA., White P; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA., Wilson RK; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA., Martin PT; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA.; Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, 43205, USA., McBride KL; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.; Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, 43205, USA.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Oct; Vol. 27 (10), pp. 1569-1577. Date of Electronic Publication: 2019 Jul 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Phenotype*, Galactosyltransferases/*genetics , Musculoskeletal Abnormalities/*diagnosis , Musculoskeletal Abnormalities/*genetics, Abortion, Spontaneous ; Cell Line ; Connective Tissue Diseases/diagnosis ; Connective Tissue Diseases/genetics ; Enzyme Activation ; Female ; Galactosyltransferases/metabolism ; Genetic Association Studies ; Humans ; Mutagenesis, Site-Directed ; Pregnancy ; Radiography ; Syndrome ; Exome Sequencing