作者: Remco Visser , Naomichi Matsumoto
DOI: 10.1097/00008480-200312000-00010
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摘要: Purpose of reviewSotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth characterized by excessive growth, distinctive craniofacial features, developmental delay, and advanced bone age. Recently, haploinsufficiency the NSD1 gene has been identified as major cause SoS, with