@article{oai:u-ryukyu.repo.nii.ac.jp:02012377,
 author = {Chinen, Yasutsugu and Nakamura, Sadao and Ganaha, Akira and Hayashi, Shin and Inazawa, Johji and Yanagi, Kumiko and Nakanishi, Koichi and Kaname, Tadashi and Naritomi, Kenji},
 issue = {2},
 journal = {Clinical Case Reports},
 month = {Feb},
 note = {A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL3 gene in addition to typical findings of BRPS., 論文},
 pages = {330--336},
 title = {Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3},
 volume = {6},
 year = {2018}
}