---
_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. <i>Clinical Genetics</i>. 2020;97(1):3-11. doi:<a href="https://doi.org/10.1111/cge.13674">10.1111/cge.13674</a>'
  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.
    <i>Clinical Genetics</i>. Wiley. <a href="https://doi.org/10.1111/cge.13674">https://doi.org/10.1111/cge.13674</a>'
  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.”
    <i>Clinical Genetics</i>. Wiley, 2020. <a href="https://doi.org/10.1111/cge.13674">https://doi.org/10.1111/cge.13674</a>.'
  ieee: 'L. Avagliano <i>et al.</i>, “Chromatinopathies: A focus on Cornelia de Lange
    syndrome,” <i>Clinical Genetics</i>, 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.” <i>Clinical Genetics</i>, vol. 97, no. 1, Wiley, 2020, pp. 3–11, doi:<a
    href="https://doi.org/10.1111/cge.13674">10.1111/cge.13674</a>.'
  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'
...