Cargando…
High rate of autonomic neuropathy in Cornelia de Lange Syndrome
BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in i...
Autores principales: | Pablo, M. J., Pamplona, P., Haddad, M., Benavente, I., Latorre-Pellicer, A., Arnedo, M., Trujillano, L., Bueno-Lozano, G., Kerr, L. M., Huisman, S. A., Kaiser, F. J., Ramos, F., Kline, A. D., Pie, J., Puisac, B. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556971/ https://www.ncbi.nlm.nih.gov/pubmed/34717699 http://dx.doi.org/10.1186/s13023-021-02082-y |
Ejemplares similares
-
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
por: Trujillano, Laura, et al.
Publicado: (2022) -
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
por: Latorre-Pellicer, Ana, et al.
Publicado: (2020) -
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
por: Lucia-Campos, Cristina, et al.
Publicado: (2022) -
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
por: Latorre-Pellicer, Ana, et al.
Publicado: (2021) -
Cornelia de Lange syndrome and cancer: An open question
por: Pallotta, Maria M., et al.
Publicado: (2022)