Two Brothers with Ataxia-Telangiectasia-like Disorder with Lung Adenocarcinoma - 09/08/11
Doi : 10.1016/j.jpeds.2009.02.037
Naoki Uchisaka, MD a, Naomi Takahashi b, Masaki Sato b, Akira Kikuchi, MD a, Shinji Mochizuki, MD a, Kohsuke Imai, MD, PhD c, Shigeaki Nonoyama, MD, PhD c, Osamu Ohara, PhD d, Fumiaki Watanabe, PhD b, Shuki Mizutani, MD, PhD b, Ryoji Hanada, MD a, Tomohiro Morio, MD, PhD b, ⁎ 
a Division of Hematology/Oncology, Saitama Children’s Medical Center, Saitama, Japan
b Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan
c Department of Pediatrics, National Defense Medical College, Saitama, Japan
d Kazusa DNA Research Institution, Chiba, Japan
Reprint requests: Tomohiro Morio, MD, PhD, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.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).
Le texte complet de cet article est disponible en PDF.Mots-clés : A-T, ATLD, NBS
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| This work was supported in part by grants from the Ministry of Health, Labour, and Welfare of Japan (T.M.) and from the Ministry of Education, Culture, Sports, Science Technology of Japan (S. Mizutani and T.M.). The authors declare no conflicts of interest. |
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Vol 155 - N° 3
P. 435-438 - septembre 2009 Retour au numéro
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