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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...

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Detalles Bibliográficos
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