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Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.

Genes - 15 Jul 2021

Selicorni Angelo, Mariani Milena, Lettieri Antonella, Massa Valentina

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number of patients described, knowledge of the natural history of the...

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Identifiers

PMID: 34356091
DOI: 10.3390/genes12071075
PMCID: PMC8307173

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