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Article

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Clinical genetics - 1 Jan 2020

Avagliano Laura, Parenti Ilaria, Grazioli Paolo, Di Fede Elisabetta, Parodi Chiara, Mariani Milena, Kaiser Frank J, Selicorni Angelo, Gervasini Cristina, Massa Valentina

Abstract excerpt

In recent years, many genes have been associated with chromatinopathies classified as "Cornelia de Lange Syndrome-like." It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange syndrome diagnosis might be arduous...

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Identifiers

PMID: 31721174
DOI: 10.1111/cge.13674

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