一种新型的家族性共济失调、耳聋和智力发育迟缓。
A new form of familial ataxia, deafness, and mental retardation.
作者信息
Reardon W, Wilson J, Cavanagh N, Baraitser M
机构信息
Department of Clinical Genetics, Hospital for Sick Children, London, UK.
出版信息
J Med Genet. 1993 Aug;30(8):694-5. doi: 10.1136/jmg.30.8.694.
Abstract
Conditions causing familial ataxia, deafness, and developmental delay are considered in the context of describing brothers with a new disorder characterised by these clinical features.
摘要
在描述患有以这些临床特征为特点的新疾病的兄弟时，会考虑导致家族性共济失调、耳聋和发育迟缓的病症。
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本文引用的文献
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A new familial syndrome with ataxia, hearing loss, and mental retardation. Report of three brothers.
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Infantile X-linked ataxia and deafness: a new clinicopathologic entity?婴儿型X连锁共济失调伴耳聋：一种新的临床病理实体？
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