Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recommendations for the diagnosis and manageme...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5387247/
https://ncbi.nlm.nih.gov/pubmed/28399932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0606-4
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