A SYNDROME OF PROGRESSIVE SENSORINEURAL DEAFNESS AND CATARACT INHERITED AS AN AUTOSOMAL DOMINANT TRAIT

被引：0
|
作者：
GUALA, A
GERMINETTI, V
SEBASTIANI, F
SILENGO, MC
机构：
[1] UNIV TURIN,IST DISCIPLINE PEDIAT,PIAZZA POLONIA 94,I-10126 TURIN,ITALY
[2] OSPED INFERM BIELLA,DIV OCULISTICA,BIELLA,ITALY
来源：
CLINICAL GENETICS | 1992年 / 41卷 / 06期
关键词：
AUTOSOMAL DOMINANT; CORTICONUCLEAR; CATARACT; SENSORINEURAL DEAFNESS; VARIABLE ONSET;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.
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页码：293 / 295
页数：3
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