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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… Click to show full 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 growth‐promoting pathways leading to cellular proliferation and expansion of tissues that arise from the affected cellular lineage.
Keywords:
somatic overgrowth;
overgrowth conditions;
diagnosis somatic;
conditions single;
molecular diagnosis;
overgrowth
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!