Molecular diagnosis of somatic overgrowth conditions: A single‐center experience
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DOI: 10.1002/mgg3.536
Abstract: 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… read more here.
Keywords: somatic overgrowth; overgrowth conditions; diagnosis somatic; conditions single ... See more keywords