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Superficial Annular Corneal Dystrophy, Ichthyosis nigrans, Microcephaly and Mild Mental Subnormality

 

作者: A. Sammartino,   G. De Crecchio,   A. Federico,   A. Loffredo,  

 

期刊: Ophthalmologica  （Karger Available online 1982）
卷期: Volume 185, issue 4  

页码: 226-230

 

ISSN:0030-3755

 

年代: 1982

 

DOI:10.1159/000309247

 

出版商: S. Karger AG

 

关键词: Ichthyosis;Corneal changes;Genetic variants

 

数据来源: Karger

 

摘要:

After discussing cases reported in the literature, the authors describe the rare presentation of superficial, annular, corneal dystrophy in a patient with ichthyosis associated with microcephaly and borderline subnormality, and they suggest a possible mechanism for its pathogenesis.

 

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