Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

by Annalisa Mencarelli, Paolo Prontera, Amedea Mencarelli, Daniela Rogaia, Gabriela Stangoni, Massimiliano Cecconi, Susanna Esposito
Published 2018-10-01