Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.
Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.
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X连锁耳聋家系和Xq13-q21缺失相关耳聋常见发病机制的表型证据。
DOI：
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发表时间：
1992
期刊：
影响因子：
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通讯作者：
H. Hughes
中科院分区：
文献类型：
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作者：
W. Reardon;S. Roberts;P. Phelps;N. S. Thomas;L. Beck;R. Issac;H. Hughes
在一些x连锁耳聋分离的家庭中，高分辨率CT扫描观察到结构性耳蜗异常。我们现在提供的证据表明，在Xq21缺失的聋人患者中也存在同样的异常。这一观察结果提供了表型证据，表明两组患者耳聋的基因型基础是相同的。淋巴周围液“喷涌”异常也可能是两者共同的。
A structural cochlear abnormality has been observed by high resolution CT scanning in some families where X-linked deafness is segregating. We now present evidence that the same abnormality is present in a deaf patient who has a deletion within Xq21. This observation provides phenotypic evidence that the genotypic basis of deafness is the same in both patient groups. It is also likely that the perilymphatic fluid "gusher" abnormality may be common to both.
一种新的 X 连锁耳聋综合征的特征和遗传图谱。
影响因子：
4
作者：
Martin,DM;Probst,FJ;Camper,SA;Petty,EM
通讯作者：
Petty,EM