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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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