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

• 主要な著者: Alice Maguolo (著者), Franco Antoniazzi (著者), Alice Spano (著者), Elena Fiorini (著者), Rossella Gaudino (著者), Margherita Mauro (著者), Gaetano Cantalupo (著者), Paolo Biban (著者), Silvia Maitz (著者), Paolo Cavarzere (著者)
• フォーマット: 図書
• 出版事項: BMC, 2018-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...