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WOLFRAM-SYNDROME - A REPORT OF 4 CASES AND REVIEW OF THE LITERATURE
被引：9
作者：
BITOUN, P
机构：
[1] Pëdiatrie Gënëtique, Hôpital Jean Verdier, Bondy
来源：
OPHTHALMIC GENETICS
|
1994年
/
15卷
/
02期
关键词：
WOLFRAM SYNDROME;
DIDMOAD;
TYPE-I DIABETES-MELLITUS;
OPTIC ATROPHY;
HIGH FREQUENCY DEAFNESS;
DIABETES-INSIPIDUS;
AUTOSOMAL RECESSIVE;
PSYCHIATRIC DISORDER;
MEGACYSTIS;
MEGAURETER;
D O I：
10.3109/13816819409098867
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ;
090102 ;
摘要：
This is a report of four new cases of Wolfram syndrome in three families and a review of the literature. The ophthalmologic, urologic, otologic, psychiatric and endocrine findings of the syndrome are discussed as well as their pathophysiology. Two recent reports with features atypical of the Wolfram syndrome are discussed. The genetics of this syndrome are also discussed.
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页码：77 / 85
页数：9
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