Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3: University of the Ryukyus Repository


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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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