Nonsyndromic hearing impairment: unparalleled heterogeneity.
作者信息
Van Camp G, Willems P J, Smith R J
机构信息
Department of Medical Genetics, University of Antwerp, Belgium.
出版信息
Am J Hum Genet. 1997 Apr;60(4):758-64.
Abstract
摘要
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本文引用的文献
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A note on deaf mutism.关于聋哑症的笔记。
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Sex-linked deafness of a possibly new type.一种可能新型的性连锁耳聋
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Hereditary deaf mutism, with particular reference to Northern Ireland.遗传性聋哑，特别提及北爱尔兰地区。
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Mapping of DFN2 to Xq22.DFN2基因定位于Xq22。
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A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.一个非综合征性感音神经性耳聋的新基因座（DFN6）定位于X染色体p22区域。
Hum Mol Genet. 1996 Sep;5(9):1383-7. doi: 10.1093/hmg/5.9.1383.
6
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.在X连锁3型耳聋（DFN3）患者中，于DFN3基因POU3F4近端900 kb处鉴定出一个微缺失热点。
Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229.
7
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.在一个挪威大家庭中鉴定出常染色体显性非综合征性听力损失（DFNA7）的一个新基因座。
Hum Mol Genet. 1996 Aug;5(8):1187-91. doi: 10.1093/hmg/5.8.1187.
8
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.人类USH1B/小鼠震颤蛋白-1：光感受器细胞中肌球蛋白VIIA的有无所解释的视网膜表型差异。
Hum Mol Genet. 1996 Aug;5(8):1171-8. doi: 10.1093/hmg/5.8.1171.
9
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.一种新的X连锁基因DDP，在患有耳聋（DFN-1）、肌张力障碍、智力缺陷和失明的家族中出现突变。
Nat Genet. 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177.
10
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.一种非综合征性常染色体显性进行性语后感觉神经性听力损失基因定位于14号染色体q12 - 13区域。
Hum Mol Genet. 1996 Jul;5(7):1047-50. doi: 10.1093/hmg/5.7.1047.
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