Article

A novel<i>SMARCC1</i>-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

2023-03-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Importance</h4> Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but the cause of most sporadic cases of CH remains elusive. Recent studies have implicated SMARCC1 , a component of the B RG1- a ssociated factor (BAF) chromatin remodeling complex, as a cand...

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Literature Corpus work: 552d7605-1dcb-5d25-b559-183626c5be61
DOI: 10.1101/2023.03.19.23287455

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