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Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3
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....
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| 發表在: | Clin Case Rep |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5799615/ https://ncbi.nlm.nih.gov/pubmed/29445472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1361 |
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