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5. Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebe

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebe

来源 :The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern | 被引量 : 0次 | 上传用户：vvchan

【摘 要】

：

　　We report the case of a 6-year-old girl with Ataxia Telangiectasia who developed a left cerebellar astrocytoma and a contralateral cerebellar infarction, th

【作 者】

：

Aldo Germani Maria Piane Camilla Savio Luciana Chessa Roberto Micheli Anna Molinaro Alessandro Plebani Lorenzo Pinelli Annarosa Soresina 

【机 构】

：

Dept.Clinical and Molecular Medicine,Sapienza University,Roma,Italy

【出 处】

：

The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern

【发表日期】

：

2015年期

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　　We report the case of a 6-year-old girl with Ataxia Telangiectasia who developed a left cerebellar astrocytoma and a contralateral cerebellar infarction, the latter never reported in AT patients.

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