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AT‐related disorder

 

作者: R.‐D. Wegner,   M. Metzger,   F. Hanefeld,   N. G. J. Jaspers,   C. Baan,   K. Magdorf,   J. Kunze,   K. Sperling,  

 

期刊: Clinical Genetics  （WILEY Available online 1988）
卷期: Volume 33, issue 1  

页码: 20-32

 

ISSN:0009-9163

 

年代: 1988

 

DOI:10.1111/j.1399-0004.1988.tb04260.x

 

出版商: Blackwell Publishing Ltd

 

关键词: chromosomal instability;complementation analysis;hypersensitivity to X‐rays and bleomycin

 

数据来源: WILEY

 

摘要:

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X‐rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non‐allelic with that of patients with ataxia telangiectasia (complementation groups AB‐E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (

 

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