Children and adults affected by Cri du Chat syndrome: Care's recommendations

by Maria Elena Liverani, Alice Spano, Cesare Danesino, Michela Malacarne, Simona Cavani, Marianna Spunton, Andrea Guala
Published 2019-02-01

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

by Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere
Published 2018-09-01

The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

by Alessandro Cattoni, Alice Spano, Anna Tulone, Annalisa Boneschi, Nicoletta Masera, Silvia Maitz, Anna Maria Di Blasio, Luca Persani, Luca Persani, Fabiana Guizzardi, Fabiana Guizzardi, Raffaella Rossetti
Published 2020-09-01

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

by Milena Crippa, Milena Crippa, Ilaria Bestetti, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Lior Cohen, Palma Finelli, Palma Finelli
Published 2020-07-01