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Haploinsufficiency of NSD1 causes Sotos syndrome

✍ Scribed by Kurotaki, Naohiro; Imaizumi, Kiyoshi; Harada, Naoki; Masuno, Mitsuo; Kondoh, Tatsuro; Nagai, Toshiro; Ohashi, Hirofumi; Naritomi, Kenji; Tsukahara, Masato; Makita, Yoshio

Book ID
109919736
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
145 KB
Volume
30
Category
Article
ISSN
1061-4036

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Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal overgrowth with advanced bone age. Here, we report on our experience in the molecular diagnostic of Sotos syndrome on 116 patients. Using di