Cargando…

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by ab...

Descripción completa

Detalles Bibliográficos
Autores principales: Duis, Jessica, Nespeca, Mark, Summers, Jane, Bird, Lynne, Bindels‐de Heus, Karen G.C.B., Valstar, M. J., de Wit, Marie‐Claire Y., Navis, C., ten Hooven‐Radstaake, Maartje, van Iperen‐Kolk, Bianca M., Ernst, Susan, Dendrinos, Melina, Katz, Terry, Diaz‐Medina, Gloria, Katyayan, Akshat, Nangia, Srishti, Thibert, Ronald, Glaze, Daniel, Keary, Christopher, Pelc, Karine, Simon, Nicole, Sadhwani, Anjali, Heussler, Helen, Wheeler, Anne, Woeber, Caroline, DeRamus, Margaret, Thomas, Amy, Kertcher, Emily, DeValk, Lauren, Kalemeris, Kristen, Arps, Kara, Baym, Carol, Harris, Nicole, Gorham, John P., Bohnsack, Brenda L., Chambers, Reid C., Harris, Sarah, Chambers, Henry G., Okoniewski, Katherine, Jalazo, Elizabeth R., Berent, Allyson, Bacino, Carlos A., Williams, Charles, Anderson, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922964/
https://www.ncbi.nlm.nih.gov/pubmed/35150089
http://dx.doi.org/10.1002/mgg3.1843