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
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A. Mencarelli | P. Prontera | S. Esposito | M. Cecconi | D. Rogaia | G. Stangoni | Annalisa Mencarelli