Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.

Uchisaka, Naoki; Takahashi, Naomi; Sato, Masaki; Kikuchi, Akira; Mochizuki, Shinji; Imai, Kohsuke; Nonoyama, Shigeaki; Ohara, Osamu et al. · J Pediatr · 2009

case_report · Level V

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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).

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