Article
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Human mutation - 1 Nov 2003
Kurotaki Naohiro, Harada Naoki, Shimokawa Osamu, Miyake Noriko, Kawame Hiroshi, Uetake Kimiaki, Makita Yoshio, Kondoh Tatsuro, Ogata Tsutomu, Hasegawa Tomoko, Nagai Toshiro, Ozaki Takao, Touyama Mayumi, Shenhav Ruthie, Ohashi Hirofumi, Medne Livija, Shiihara Takashi, Ohtsu Shigeyuki, Kato Zen-ichiro, Okamoto Nobuhiko, Nishimoto Junji, Lev Dorit, Miyoshi Yoko, Ishikiriyama Satoshi, Sonoda Tohru, Sakazume Satoru, Fukushima Yoshimitsu, Kurosawa Kenji, Cheng Jan-Fang, Yoshiura Koh-ichiro, Ohta Tohru, Kishino Tatsuya, Niikawa Norio, Matsumoto Naomichi
Abstract excerpt
Sotos syndrome (SoS) is an autosomal dominant overgrowth syndrome with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined. Since the first report, an additional 70 SoS cases...
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