Open AccessMild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL 3
Author(s) -
Chinen Yasutsugu,
Nakamura Sadao,
Ganaha Akira,
Hayashi Shin,
Inazawa Johji,
Yanagi Kumiko,
Nakanishi Koichi,
Kaname Tadashi,
Naritomi Kenji
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1361
Subject(s) - medicine , frameshift mutation , forehead , fissure , ridge , anatomy , gene , genetics , mutation , paleontology , geology , biology
Key Clinical Message 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 ASXL 3 gene in addition to typical findings of BRPS .