一名患有新的移码变异的班布里奇-罗佩斯综合征患者的大脑外侧裂轻度突出。
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in .
作者信息
Chinen Yasutsugu, Nakamura Sadao, Ganaha Akira, Hayashi Shin, Inazawa Johji, Yanagi Kumiko, Nakanishi Koichi, Kaname Tadashi, Naritomi Kenji
机构信息
Department of Pediatrics Faculty of Medicine University of the Ryukyus Nishihara Japan.
Department of Otorhinolaryngology, Head and Neck Surgery Faculty of Medicine University of the Ryukyus Nishihara Japan.
出版信息
Clin Case Rep. 2017 Dec 28;6(2):330-336. doi: 10.1002/ccr3.1361. eCollection 2018 Feb.
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 gene in addition to typical findings of BRPS.
一名7岁患有班布里奇-罗佩斯综合征（BRPS）的日本男孩，前额呈明显圆顶状且无额嵴，外侧裂轻度突出伴双侧颞部凹陷，除具有BRPS的典型表现外，该基因还存在一个杂合的新生突变“p.P1010Lfs*14”。
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