Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
Fryssira H et al.
Genetic Counseling (geneva, Switzerland), 2010
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J et al.
Journal of Medical Genetics, 2003
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