两例患有共济失调毛细血管扩张症样疾病并伴有肺腺癌的兄弟。
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.
作者信息
Uchisaka Naoki, Takahashi Naomi, Sato Masaki, Kikuchi Akira, Mochizuki Shinji, Imai Kohsuke, Nonoyama Shigeaki, Ohara Osamu, Watanabe Fumiaki, Mizutani Shuki, Hanada Ryoji, Morio Tomohiro
机构信息
Division of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
出版信息
J Pediatr. 2009 Sep;155(3):435-8. doi: 10.1016/j.jpeds.2009.02.037.
PMID:19732584
Abstract
We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation. They had the same mutation of the MRE11 gene, which has not been reported previously (c.727T>C and g.24994G>A).
摘要
我们报告了2例患有共济失调-毛细血管扩张样疾病并伴有肺腺癌的兄弟。他们都有共济失调伴小脑萎缩和智力发育迟缓。他们的MRE11基因发生了相同的突变，此前尚未有过相关报道（c.727T>C和g.24994G>A）。
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