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Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

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.

SUBMITTER: Chinen Y

PROVIDER: S-EPMC5799615 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

Chinen Yasutsugu Y Nakamura Sadao S Ganaha Akira A Hayashi Shin S Inazawa Johji J Yanagi Kumiko K Nakanishi Koichi K Kaname Tadashi T Naritomi Kenji K

Clinical case reports 20171228 2

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. ...[more]

PMID: 29445472

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