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Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome
Authors:Nicita Francesco  Tarani Luigi  Spalice Alberto  Grasso Marina  Papetti Laura  Cecconi Massimiliano  Biasi Claudio Di  Ursitti Fabiana  Iannetti Paola
Affiliation:Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, 00161 Rome, Italy. childneurology.sapienzaroma@live.it
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