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

• Main Authors: Alice Maguolo (Author), Franco Antoniazzi (Author), Alice Spano (Author), Elena Fiorini (Author), Rossella Gaudino (Author), Margherita Mauro (Author), Gaetano Cantalupo (Author), Paolo Biban (Author), Silvia Maitz (Author), Paolo Cavarzere (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosa...