期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 130A, 期 4, 页码 393-394出版社
WILEY
DOI: 10.1002/ajmg.a.30032
关键词
overgrowth; neoplasms; nuclear receptor SET-domain-containing protein; microdeletion
ySotos syndrome, a disorder with macrocephaly, mental delay, and facial anomalies, has been noted to have an increased risk of neoplasia. Here, we report a patient with a microdeletion in nuclear receptor SET-domain-containing protein (NSD1) and a previously undescribed intracranial ganglioglioma. (C) 2004 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据