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

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

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...

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Bibliographic Details
Main Authors: Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Italian Journal of Pediatrics
Subjects:
Overgrowth
Hemihyperplasia
PIK3CA gene
Megalencephaly-capillary malformation syndrome
Online Access:http://link.springer.com/article/10.1186/s13052-018-0568-8

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http://link.springer.com/article/10.1186/s13052-018-0568-8

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