Journal
CLINICAL GENETICS
Volume 97, Issue 1, Pages 3-11Publisher
WILEY
DOI: 10.1111/cge.13674
Keywords
chromatin disorders; cohesinopathies; Cornelia de Lange syndrome; genotype-phenotype relationship
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Funding
- Fondazione Cariplo [2015-0783] Funding Source: Medline
- German Federal Ministry of Education and Research (BMBF) [CHROMATIN-Net] Funding Source: Medline
- Dipartimento DiSS, Università degli Studi di Milano [Linea 2] Funding Source: Medline
- Nickel & Co S.p.A. Funding Source: Medline
- Medical Faculty of the University of Lübeck [J09-2017] Funding Source: Medline
- Università degli Studi di Milano [Molecular & Translational Medicine PhD Scholarship, Translational Medicine PhD Scholarship] Funding Source: Medline
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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 due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Here, we review the molecular features of Cornelia de Lange syndrome, supporting the hypothesis that CdLS-like syndromes are part of a larger rare disease family sharing multiple clinical features and common disrupted molecular pathways.
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