Article
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
American journal of medical genetics. Part A - 1 Sept 2011
Fickie Matthew R, Lapunzina Pablo, Gentile Jennifer K, Tolkoff-Rubin Nina, Kroshinsky Daniela, Galan Enrique, Gean Esther, Martorell Loreto, Romanelli Valeria, Toral Joaquín Fernandez, Lin Angela E
Abstract excerpt
Sotos syndrome is a well-described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, and variable learning disabilities. The diagnosis of Sotos syndrome relied solely on these clinical criteria until haploinsufficiency of the NSD1 gene was identified as causative. We describe a 63-year-old woman with classic features and a pathogenic NSD1 mutation, who we believe to be...
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