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Title | : | Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3 |
Authors | : | Chinen, Yasutsugu Nakamura, Sadao Ganaha, Akira Hayashi, Shin Inazawa, Johji Yanagi, Kumiko Nakanishi, Koichi Kaname, Tadashi Naritomi, Kenji |
Issue Date | : | Feb-2018 |
Abstract | : | 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. |
URL | : | https://doi.org/10.1002/ccr3.1361 |
Type Local | : | 雑誌掲載論文 |
ISSN | : | 2050-0904 |
Publisher | : | Wiley |
URI | : | http://hdl.handle.net/20.500.12000/45875 |
Citation | : | Clinical Case Reports Vol.6 no.2 p.330 -336 |
Appears in Collections | : | Peer-reviewed Journal Articles (Faculty of Medicine)
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