Ontology highlight
ABSTRACT:
SUBMITTER: Miyake N
PROVIDER: S-EPMC1180287 | biostudies-literature | 2003 May
REPOSITORIES: biostudies-literature
Miyake Noriko N Kurotaki Naohiro N Sugawara Hirobumi H Shimokawa Osamu O Harada Naoki N Kondoh Tatsuro T Tsukahara Masato M Ishikiriyama Satoshi S Sonoda Tohru T Miyoshi Yoko Y Sakazume Satoru S Fukushima Yoshimitsu Y Ohashi Hirofumi H Nagai Toshiro T Kawame Hiroshi H Kurosawa Kenji K Touyama Mayumi M Shiihara Takashi T Okamoto Nobuhiko N Nishimoto Junji J Yoshiura Ko-ichiro K Ohta Tohru T Kishino Tatsuya T Niikawa Norio N Matsumoto Naomichi N
American journal of human genetics 20030409 5
Sotos syndrome (SoS) is characterized by pre- and postnatal overgrowth with advanced bone age; a dysmorphic face with macrocephaly and pointed chin; large hands and feet; mental retardation; and possible susceptibility to tumors. It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1. In the present study, we traced the parental or ...[more]