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

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 mosaic somat...

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Bibliographische Detailangaben
Veröffentlicht in:Ital J Pediatr
Hauptverfasser: Maguolo, Alice, Antoniazzi, Franco, Spano, Alice, Fiorini, Elena, Gaudino, Rossella, Mauro, Margherita, Cantalupo, Gaetano, Biban, Paolo, Maitz, Silvia, Cavarzere, Paolo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6146629/
https://ncbi.nlm.nih.gov/pubmed/30231930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-018-0568-8
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