Molecular diagnosis of somatic overgrowth conditions: A single‐center experience
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
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
Genetic basis and imaging findings of neurofibromatosis 1 and other somatic overgrowth disorders
Sign Up to like & getrecommendations! Published in 2024 at "Skeletal Radiology"
DOI: 10.1007/s00256-024-04772-7
Abstract: Somatic overgrowth disorders comprise a wide range of rare conditions that present with focal enlargement of one or more tissue types. The PI3K-AKT-mTOR pathway is a signalling pathway that induces angiogenesis and cell proliferation, and… read more here.
Keywords: overgrowth; somatic overgrowth; akt mtor; overgrowth disorders ... See more keywords