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

Journal of genetics

Alberto Spalice²  Francesco Nicita1²  Paola Iannetti²  Claudio Di Biasi⁴  Luigi Tarani³  Marina Grasso¹  Laura Papetti²  Massimiliano Cecconi¹  Fabiana Ursitti² 

[1] Laboratory of Genetics, Galliera Hospital, 16128 Genoa, Italy$$;Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, 00161 Rome, Italy$$;Department of Pediatrics, Sapienza University of Rome, 00161 Rome, Italy$$;Department of Radiology, Sapienza University of Rome, 00161 Rome, Italy$$

关键词: Sotos syndrome;    NSD1;    overgrowth;    seizures;    syncope;    MRI.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 授权许可】

Unknown