Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
作者信息
Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K
出版信息
J Med Genet. 2003 Apr;40(4):285-9. doi: 10.1136/jmg.40.4.285.
Abstract
摘要
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Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.索托斯综合征与 NSD1 单倍剂量不足：基因内突变和亚显微缺失的临床特征
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