南非一个家族中的X连锁遗传性耳聋 - Suppr

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X-linked deafness in a South African kindred.

作者信息

Thorpe P, Sellars S, Beighton P

出版信息

S Afr Med J. 1974 Mar 23;48(14):587-90.

PMID:4821674

Abstract

摘要

相似文献

X-linked deafness in a South African kindred.南非一个家族中的X连锁遗传性耳聋

S Afr Med J. 1974 Mar 23;48(14):587-90.

X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.伴有镫骨足板先天性固定和外淋巴瘘的X连锁混合性耳聋。

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Genetics of deafness: clinical aspects.耳聋的遗传学：临床方面

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Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.先天性全身性多毛症伴耳聋和牙齿异常，呈X连锁遗传。

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X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

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Genetic hearing impairment in the Dalmatian dog. An audiometric, genetic and morphologic study in 53 dogs.大麦町犬的遗传性听力障碍。对53只犬的听力测定、遗传学及形态学研究。

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引用本文的文献

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.一种伴有失明、肌张力障碍、骨折和智力缺陷的新的X连锁隐性耳聋综合征与Xq22相关。

J Med Genet. 1995 Apr;32(4):257-63. doi: 10.1136/jmg.32.4.257.

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.与镫骨手术中出现外淋巴瘘的X连锁进行性混合性耳聋（DFN3）相关的基因与磷酸甘油酸激酶基因（PGK）有关。

Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647.

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.伴有镫骨固定的脉络膜视网膜萎缩症和耳聋：一种Xq21区域的相邻基因缺失综合征

Am J Hum Genet. 1989 Oct;45(4):530-40.

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.X连锁遗传性耳聋、镫骨涌血与内耳的一种独特缺陷

Neuroradiology. 1991;33(4):326-30. doi: 10.1007/BF00587816.

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).与井喷相关的X连锁混合性耳聋（DFN3）患者的微缺失。

Am J Hum Genet. 1992 Jul;51(1):38-44.

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