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Article

Molecular diagnosis of somatic overgrowth conditions: A single‐center experience

13 Feb 2019

Abstract excerpt

BACKGROUND: Somatic overgrowth conditions, including Proteus syndrome, Sturge-Weber syndrome, and PIK3CA-related overgrowth spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in growth-promoting pathways leading to cellular proliferation and expansion of tissues that arise from the affected...

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PMID: 30761771
DOI: 10.1002/mgg3.536

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