Gianluigi Laccetta Francesca Moscuzza Angela Michelucci Andrea Guzzetta Sara Lunardi Francesca Lorenzoni Paolo Ghirri
10.3389/fped.2017.00236
Front Pediatr
2017 Nov 7;5:236.
nsd1 sotos cryptorchidism dolichocephaly hypertelorism learning disability overgrowth
CC BY
https://pubmed.ncbi.nlm.nih.gov/29164086/
Case Reports
PMC5681921
29164086
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome
2017