Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3
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منابع مشابه
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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The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes. Mammals, including humans, possess 3 Asx orthologs: 2 expressed ubiquitously, while the third, ASXL3, is predominantly expressed in the brain. All 3 are involved in transcriptional regulation of many genes through direct actions ...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2017
ISSN: 2050-0904
DOI: 10.1002/ccr3.1361