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

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.

Source: Orphanet Journal of Rare Diseases - April 11, 2017 Category: Internal Medicine 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 and Marco Crimi Source Type: research