Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

doi:10.1136/jmedgenet-2019-106724

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Article

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Journal of medical genetics - 1 Nov 2020

Squeo Gabriella Maria, Augello Bartolomeo, Massa Valentina, Milani Donatella, Colombo Elisa Adele, Mazza Tommaso, Castellana Stefano, Piccione Maria, Maitz Silvia, Petracca Antonio, Prontera Paolo, Accadia Maria, Della Monica Matteo, Di Giacomo Marilena Carmela, Melis Daniela, Selicorni Angelo, Giglio Sabrina, Fischetto Rita, Di Fede Elisabetta, Malerba Natascia, Russo Matteo, Castori Marco, Gervasini Cristina, Merla Giuseppe

Abstract excerpt

BACKGROUND: The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is...

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PMID: 32170002
DOI: 10.1136/jmedgenet-2019-106724

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