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Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical <i>Setbp1</i> <sup>S858R</sup> Schinzel Giedion Syndrome mice

2023-08-01

Abstract excerpt

Schinzel Giedion Syndrome (SGS) is an ultra-rare autosomal dominant Mendelian disease presenting with abnormalities spanning multiple organ systems. The most notable phenotypes involve severe developmental delay, progressive brain atrophy, and drug-resistant seizures. SGS is caused by spontaneous variants in SETBP1 , which encodes for the epigenetic hub SETBP1 transcription factor (TF). SETBP1 variants causing c...

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Literature Corpus work
96f143d0-9895-5306-82c9-47030e0d1379
DOI
10.1101/2023.07.31.551338
Open publication

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Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical <i>Setbp1</i> <sup>S858R</sup> Schinzel Giedion Syndrome miceDOI 10.1101/2023.07.31.551338
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