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

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

Abstract 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 m...

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Bibliographic Details
Main Authors: Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ring14 syndrome
Recommendations
Caregivers
Best practices
Online Access:http://link.springer.com/article/10.1186/s13023-017-0606-4

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