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

被引：0
作者：
Alice Maguolo
Franco Antoniazzi
Alice Spano
Elena Fiorini
Rossella Gaudino
Margherita Mauro
Gaetano Cantalupo
Paolo Biban
Silvia Maitz
Paolo Cavarzere
机构：
[1] University Hospital of Verona,Pediatric Division, Department of Pediatrics
[2] University of Verona,Regional Center for the Diagnosis and Treatment of Children and Adolescents Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics
[3] University of Milan,Medical Genetic Specialization
[4] University of Verona,Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics
[5] Universitary Hospital of Verona,Pediatric Intensive Care Unit
[6] MBBM Foundation,Clinical Pediatric Genetics Unit, Pediatrics Clinics
[7] S. Gerardo Hospital,undefined
来源：
Italian Journal of Pediatrics | / 44卷
关键词：
Overgrowth; Hemihyperplasia; gene; Megalencephaly-capillary malformation syndrome;
D O I：
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