著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Angela E. Lin and Caroline Michot and Valerie Cormier‐Daire and Thomas J. L'Ecuyer and G. Paul Matherne and Barrett H. Barnes and Jennifer B. Humberson and Andrew C. Edmondson and Elaine Zackai and Matthew J. O'Connor and Julie D. Kaplan and Makram R. Ebeid and Joel Krier and Elizabeth Krieg and Brian Ghoshhajra and Mark E. Lindsay,Gain‐of‐function mutations in <i>SMAD4</i> cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome,American Journal of Medical Genetics Part A,1552-4825,Wiley,2016-06-14,170,10,2617-2631,https://cir.nii.ac.jp/crid/1360857597262728960,https://doi.org/10.1002/ajmg.a.37739