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Article

Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome.

Human molecular genetics - 1 Dec 2023

Larrigan Sarah, Joshi Shrilaxmi V, Mattar Pierre

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)-an intellectual disability disorder caused by mutations in the CHD4 chromodomain helicase gene. We utilized mouse genetics to excise the Chd4 ATPase/helicase...

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PMID: 37738575
DOI: 10.1093/hmg/ddad157
PMCID: PMC10695680

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