---
_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'
...