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Corneal opacity, microphthalmia, mental retardation, microcephaly and generaIized muscular spasticity associated with hypergIycinemia

 

作者: S. Balci,   B. Say,   T. Firat,  

 

期刊: Clinical Genetics  （WILEY Available online 1974）
卷期: Volume 5, issue 1  

页码: 36-39

 

ISSN:0009-9163

 

年代: 1974

 

DOI:10.1111/j.1399-0004.1974.tb01656.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

A 5‐year‐old girl with an oculo‐cerahral syndrome born to consanguineous parents is presented. The patient had glycinuria in addition to the usual findings of cloudy corneas, spastic diplegia and motor and mental retardation encountered in patients with this syndrome. Interestingly, tapetoretinal dystrophy was found in two maternal u

 

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