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)
Kikumi Ushijima and Yuya Ogawa and Miho Terao and Yumi Asakura and Koji Muroya and Mie Hayashi and Tomohiro Ishii and Tomonobu Hasegawa and Ryohei Sekido and Maki Fukami and Shuji Takada and Satoshi Narumi,"Identification of the first <scp>promoter‐specific gain‐of‐function <i>SOX9</i></scp> missense variant (p.<scp>E50K</scp>) in a patient with 46,<scp>XX</scp> ovotesticular disorder of sex development",American Journal of Medical Genetics Part A,1552-4825,Wiley,2021-01-05,185,4,1067-1075,https://cir.nii.ac.jp/crid/1360009142418872960,https://doi.org/10.1002/ajmg.a.62063