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Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

 

作者: John T. Martsolf,   Alasdair G. W. Hunter,   James C. Haworth,   J. Herrmann,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1978）
卷期: Volume 1, issue 3  

页码: 291-299

 

ISSN:0148-7299

 

年代: 1978

 

DOI:10.1002/ajmg.1320010305

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: mental retardation;cataracts;hypogonadism

 

数据来源: WILEY

 

摘要:

AbstractTwo severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.

 

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