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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BMC,
2022-05-01T00:00:00Z.
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