Mild Prominence Of The Sylvian Fissure In A Bainbridge-Ropers Syndrome Patient With A Novel Frameshift Variant In Asxl3

Yasutsugu Chinen,Sadao Nakamura,Akira Ganaha,Shin Hayashi,Johji Inazawa,Kumiko Yanagi,Koichi Nakanishi,Tadashi Kaname,Kenji Naritomi

CLINICAL CASE REPORTS（2018）

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摘要

Key Clinical MessageA 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.

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关键词

ASXL3, Bainbridge-Ropers syndrome, Sylvian fissure

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