Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

Francesco Nicita, Luigi Tarani, Alberto Spalice, Marina Grasso, Laura Papetti, Massimiliano Cecconi, Claudio Di Biasi, Fabiana Ursitti, Paola Iannetti

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)147-150
Number of pages4
JournalJournal of Genetics
Issue number1
Publication statusPublished - Apr 2011


  • MRI
  • NSD1
  • overgrowth
  • seizures
  • Sotos syndrome
  • syncope

ASJC Scopus subject areas

  • Genetics

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