性连锁隐性先天性耳聋与儿童重度耳聋中男性比例过高的现象。 - Suppr

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超能文献

Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.

作者信息

Fraser G R

出版信息

Ann Hum Genet. 1965 Nov;29(2):171-96. doi: 10.1111/j.1469-1809.1965.tb00512.x.

DOI:10.1111/j.1469-1809.1965.tb00512.x

PMID:5865628

Abstract

摘要

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Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.性连锁隐性先天性耳聋与儿童重度耳聋中男性比例过高的现象。

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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。

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引用本文的文献

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.中国人群中 X 连锁遗传性听力损失的基因组和表型特征。

Orphanet J Rare Dis. 2024 Sep 13;19(1):342. doi: 10.1186/s13023-024-03338-z.

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.一种与Xp21.2相关的新型非综合征性X连锁感音神经性听力障碍。

Am J Hum Genet. 1994 Oct;55(4):685-94.

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.X连锁进行性混合性耳聋：一种涉及Xq21更近端区域的新微缺失。

Am J Hum Genet. 1995 Jan;56(1):224-30.

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Population genetic studies of retinitis pigmentosa.视网膜色素变性的群体遗传学研究。

Am J Hum Genet. 1980 Mar;32(2):223-35.

On the heredity of retinitis pigmentosa.关于视网膜色素变性的遗传

Br J Ophthalmol. 1982 Jul;66(7):405-16. doi: 10.1136/bjo.66.7.405.

Sex-linked congenital deafness.性连锁先天性耳聋

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Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism.伴有白化病的性连锁遗传性耳聋综合征女性携带者的听力障碍。

J Med Genet. 1969 Jun;6(2):132-4. doi: 10.1136/jmg.6.2.132.

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。

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Genetic analysis of a group of mentally retarded children.

Indian J Pediatr. 1989 Mar-Apr;56(2):249-58. doi: 10.1007/BF02726619.

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