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)
S Stoppa‐Vaucher and T Ayabe and J Paquette and N Patey and D Francoeur and J‐M Vuissoz and J Deladoëy and ME Samuels and T Ogata and CL Deal,"46, XY gonadal dysgenesis: new <i>SRY</i> point mutation in two siblings with paternal germ line mosaicism",Clinical Genetics,0009-9163,Wiley,2012-01-30,82,6,505-513,https://cir.nii.ac.jp/crid/1360565168161389696,https://doi.org/10.1111/j.1399-0004.2011.01832.x