Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
D Carli, N Resta, GB Ferrero… - American Journal of …, 2022 - Wiley Online Library
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
G Reynolds, S Cardaropoli, D Carli, M Luca… - European Journal of …, 2023 - nature.com
PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes,
collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These gain-of …
collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These gain-of …
[HTML][HTML] Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood
S Bellucca, D Carli, A Gazzin, S Massuras… - The Journal of …, 2024 - Elsevier
Objective To demonstrate a high-yield molecular diagnostic workflow for lateralized
overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and to …
overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and to …