Associated Papers
The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
Yue X et al.
Bmc Pediatrics, 2024
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N et al.
Human Mutation, 2003
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
Nagai T et al.
Journal of Medical Genetics, 2003
Haploinsufficiency of NSD1 causes Sotos syndrome.
Kurotaki N et al.
Nature Genetics, 2002
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