[汤姆斯-布罗克斯综合征的临床与遗传学分析]
[Clinical and genetic analysis of the Townes-Brocks syndrome].
作者信息
Il'ina E G, Laziuk G I
出版信息
Tsitol Genet. 1992 Jul-Aug;26(4):32-5.
PMID:1440915
Abstract
Due to the performed analysis of data from literature and the author's observations of the Taunse-Brock's syndrome a wide variability of phenotypic manifestations is shown, the diagnostic criteria of syndrome are determined, its autosomic-dominant inheritance with complete penetrance is confirmed.
摘要
基于对文献数据的分析以及作者对陶恩斯 - 布罗克综合征的观察，结果显示该综合征的表型表现具有广泛变异性，确定了综合征的诊断标准，并证实其为具有完全外显率的常染色体显性遗传。
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