Article
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Birth defects research - 1 Dec 2022
Romano Ferruccio, Madia Francesca, De Marco Patrizia, Ognibene Marzia, Guerrisi Sara, Scala Marcello, Iacomino Michele, Baldassari Simona, Vercellino Nadia, Manunza Francesca, Tallone Ramona, Pavanello Marco, Piatelli Gianluca, Garaventa Alberto, Zara Federico, Capra Valeria
Abstract excerpt
Segmental overgrowth syndromes include a group of clinical entities, all characterized by the abundant proliferation of tissues or organs in association with vascular abnormalities. These syndromes show a wide spectrum of severity ranging from limited involvement of only small areas of the body to complex cases with impressive distortions of multiple tissues and organs. It is now clear that somatic mutations in...
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