Matteo Iacoviello

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello et al. · Journal of Medical Genetics · 2022 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A new case of <scp>Smith‐Kingsmore</scp> syndrome with somatic <scp>MTOR</scp> pathogenic variant expands the phenotypic spectrum to lateralized overgrowth

Diana Carli, Giovanni Battista Ferrero, Anna Fusillo et al. · Clinical Genetics · 2021 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy

Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate et al. · European Journal of Internal Medicine · 2023 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association

Andrea Gazzin, Chiara Leoni, Germana Viscogliosi et al. · Genes · 2023 · 13 citations · Full text

Medicine, Genetics, Molecular Genetics +17