一个家族中出现与弗里德赖希共济失调难以区分的共济失调与先天性青光眼的关联：一种新综合征。
Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome.
作者信息
Combarros O, Calleja J, Leno C, Berciano J
机构信息
Department of Medicine (Section of Neurology), National Hospital Marqués de Valdecilla, Faculty of Medicine, Santander, Spain.
出版信息
J Med Genet. 1988 Jan;25(1):44-6. doi: 10.1136/jmg.25.1.44.
Abstract
An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.
摘要
描述了一个近亲家族，其中三个同胞患有先天性青光眼，其中两个还患有与弗里德赖希共济失调无法区分的共济失调。这两种疾病之间的关联此前尚未见报道。讨论了这种关联的遗传机制。
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