--- _id: '7149' abstract: - lang: eng text: 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. acknowledgement: ' Dipartimento DiSS, Università degli Studi di Milano, Grant/Award Number: Linea 2; Fondazione Cariplo, Grant/Award Number: 2015-0783; German Federal Ministry of Education and Research (BMBF), Grant/Award Number: CHROMATIN-Net; Medical Faculty of the University of Lübeck, Grant/Award Number: J09-2017; Nickel & Co S.p.A.; Università degli Studi di Milano, Grant/Award Numbers: Molecular & Translational Medicine PhD Scholarship, Translational Medicine PhD Scholarship' article_processing_charge: No article_type: review author: - first_name: Laura full_name: Avagliano, Laura last_name: Avagliano - first_name: Ilaria full_name: Parenti, Ilaria id: D93538B0-5B71-11E9-AC62-02EBE5697425 last_name: Parenti - first_name: Paolo full_name: Grazioli, Paolo last_name: Grazioli - first_name: Elisabetta full_name: Di Fede, Elisabetta last_name: Di Fede - first_name: Chiara full_name: Parodi, Chiara last_name: Parodi - first_name: Milena full_name: Mariani, Milena last_name: Mariani - first_name: Frank J. full_name: Kaiser, Frank J. last_name: Kaiser - first_name: Angelo full_name: Selicorni, Angelo last_name: Selicorni - first_name: Cristina full_name: Gervasini, Cristina last_name: Gervasini - first_name: Valentina full_name: Massa, Valentina last_name: Massa citation: ama: 'Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674' apa: 'Avagliano, L., Parenti, I., Grazioli, P., Di Fede, E., Parodi, C., Mariani, M., … Massa, V. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. Wiley. https://doi.org/10.1111/cge.13674' chicago: 'Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics. Wiley, 2020. https://doi.org/10.1111/cge.13674.' ieee: 'L. Avagliano et al., “Chromatinopathies: A focus on Cornelia de Lange syndrome,” Clinical Genetics, vol. 97, no. 1. Wiley, pp. 3–11, 2020.' ista: 'Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C, Massa V. 2020. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 97(1), 3–11.' mla: 'Avagliano, Laura, et al. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics, vol. 97, no. 1, Wiley, 2020, pp. 3–11, doi:10.1111/cge.13674.' short: L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa, Clinical Genetics 97 (2020) 3–11. date_created: 2019-12-04T16:10:59Z date_published: 2020-01-01T00:00:00Z date_updated: 2023-08-17T14:06:20Z day: '01' department: - _id: GaNo doi: 10.1111/cge.13674 external_id: isi: - '000562561800001' pmid: - '31721174' intvolume: ' 97' isi: 1 issue: '1' language: - iso: eng month: '01' oa_version: None page: 3-11 pmid: 1 publication: Clinical Genetics publication_identifier: eissn: - 1399-0004 issn: - 0009-9163 publication_status: published publisher: Wiley quality_controlled: '1' scopus_import: '1' status: public title: 'Chromatinopathies: A focus on Cornelia de Lange syndrome' type: journal_article user_id: 4359f0d1-fa6c-11eb-b949-802e58b17ae8 volume: 97 year: '2020' ...