@article{8d0553bad2fd4782a79ea824ea87a791,
title = "Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome",
keywords = "MRI, NSD1, overgrowth, seizures, Sotos syndrome, syncope",
author = "Francesco Nicita and Luigi Tarani and Alberto Spalice and Marina Grasso and Laura Papetti and Massimiliano Cecconi and {Di Biasi}, Claudio and Fabiana Ursitti and Paola Iannetti",
year = "2011",
month = apr,
doi = "10.1007/s12041-011-0032-7",
language = "English",
volume = "90",
pages = "147--150",
journal = "Journal of Genetics",
issn = "0022-1333",
publisher = "Springer India",
number = "1",
}