一种新型遗传性感觉神经病。
A new variety of hereditary sensory neuropathy.
作者信息
Robinson G C, Jan J E, Miller J R
出版信息
Hum Genet. 1977 Feb 11;35(2):153-61. doi: 10.1007/BF00393964.
PMID:191348
Abstract
A pedigree with a new form of hereditary sensory neuropathy is described. Ataxia and scoliosis rather than loss of pain and ulcerating acropathy are the principal clinical feature. Analysis of the pedigree suggests a dominant mode of transmission with variable age of onset and perhaps reduced penetrance.
摘要
本文描述了一个患有新型遗传性感觉神经病的家系。共济失调和脊柱侧弯而非疼痛丧失和肢端溃疡病是主要的临床特征。对该家系的分析表明其遗传方式为显性遗传，发病年龄各异，且可能存在外显率降低的情况。
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