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)
Aleksander Jamsheer and Anna Sowinska-Seidler and Ewelina M Olech and Magdalena Socha and Kazimierz Kozlowski and Antoni Pyrkosz and Tomasz Trzeciak and Anna Materna-Kiryluk and Anna Latos-Bielenska,"Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene",Journal of human genetics,14345161,Tokyo : Springer Nature,2016-05,61,5,457-461,https://cir.nii.ac.jp/crid/1521699229985094912,