Article

Divergent phenotypes in germline versus conditional mutant mouse models of Sifrim-Hitz-Weiss Syndrome

2023-02-16

Abstract excerpt

Chromatin remodellers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), however, their functions during brain development are not fully understood. Here, we focused on Sifrim-Hitz-Weiss Syndrome (SIHIWES) – a brain overgrowth/intellectual disability disorder caused by mutations in the CHD4 chromodomain helicase gene. We utilized mouse genetics to excise the Chd4 ATPase/...

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Literature Corpus work: c8f07f13-913e-5a15-8179-4d5fa9bce906
DOI: 10.1101/2023.02.15.528754

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