Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

by Annalisa Mencarelli, Paolo Prontera, Gabriela Stangoni, Elisabetta Mencaroni, Nicola Principi, Susanna Esposito
Published 2017-10-01

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

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the <i>AMN</i> Gene: A Case Report

by Alessandra Pacitto, Paolo Prontera, Gabriela Stangoni, Maurizio Stefanelli, Stefania Ceppi, Carla Cerri, Grazia Gurdo, Annalisa Mencarelli, Susanna Esposito
Published 2019-01-01

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

by Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Published 2017-09-01

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis

by Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito
Published 2018-04-01