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) Vincent El Ghouzzi and Elisabeth Lajeunie and Martine Le Merrer and Valérie Cormier-Daire and Dominique Renier and Arnold Munnich and Jacky Bonaventure,Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome,European Journal of Human Genetics,1018-4813,Springer Science and Business Media LLC,1999-01,7,1,27-33,https://cir.nii.ac.jp/crid/1360017287278144640,https://doi.org/10.1038/sj.ejhg.5200240