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

Abstract 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 caus...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. deWit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. vanIperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2022-03-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	Angelman Syndrome genetics management neurogenetics UBE3A
Accesso online:	https://doi.org/10.1002/mgg3.1843
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!