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 journalArticle

Original languageEnglish
Pages (from-to)147-150
Number of pages4
JournalJournal of Genetics
Volume90
Issue number1
DOIs
Publication statusPublished - Apr 2011

Keywords

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

ASJC Scopus subject areas

  • Genetics

Cite this

Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome. / Nicita, Francesco; Tarani, Luigi; Spalice, Alberto; Grasso, Marina; Papetti, Laura; Cecconi, Massimiliano; Di Biasi, Claudio; Ursitti, Fabiana; Iannetti, Paola.

In: Journal of Genetics, Vol. 90, No. 1, 04.2011, p. 147-150.

Research output: Contribution to journalArticle

Nicita, F, Tarani, L, Spalice, A, Grasso, M, Papetti, L, Cecconi, M, Di Biasi, C, Ursitti, F & Iannetti, P 2011, 'Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome', Journal of Genetics, vol. 90, no. 1, pp. 147-150. https://doi.org/10.1007/s12041-011-0032-7
Nicita, Francesco ; Tarani, Luigi ; Spalice, Alberto ; Grasso, Marina ; Papetti, Laura ; Cecconi, Massimiliano ; Di Biasi, Claudio ; Ursitti, Fabiana ; Iannetti, Paola. / Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome. In: Journal of Genetics. 2011 ; Vol. 90, No. 1. pp. 147-150.
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