PIK3CA-related overgrowth with an uncommon phenotype: case report

Abstract Background Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum". Case...

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Main Authors: Roberta Rotunno (Author), Andrea Diociaiuti (Author), Elisa Pisaneschi (Author), Claudia Carnevale (Author), Marialisa Dentici (Author), May El Hachem (Author)
Format: Book
Published: BMC, 2022-05-01T00:00:00Z.
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3rd Floor Main Library

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