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A variant of the “DIDMOAD” syndrome: (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness)

 

作者: E. Friedman,   A. Blau,   Z. Farfel,  

 

期刊: Clinical Genetics  （WILEY Available online 1986）
卷期: Volume 29, issue 1  

页码: 79-82

 

ISSN:0009-9163

 

年代: 1986

 

DOI:10.1111/j.1399-0004.1986.tb00774.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Diabetes insipidus;diabetes mellitus;retinal pigmentation;sensorineural deafness

 

数据来源: WILEY

 

摘要:

A 29‐year‐old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the “DIDMOAD” (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected

 

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