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。 - Suppr

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超能文献

Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism.

作者信息

Fried K, Feinmesser M, Tsitsianov J

出版信息

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

DOI:10.1136/jmg.6.2.132

PMID:5801459

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468856/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5864/1468856/6ea9ed5ad2f9/jmedgene00373-0024-a.jpg

相似文献

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.

Hereditary congenital severe deafness syndromes.遗传性先天性重度耳聋综合征

Ann Otol Rhinol Laryngol. 1971 Apr;80(2):269-88. doi: 10.1177/000348947108000216.

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).白化病-耳聋综合征（蒂茨综合征）中MITF基因的突变。

Clin Dysmorphol. 1998 Jan;7(1):17-20.

[Hereditary hearing difficulties and deafness].[遗传性听力障碍与耳聋]

Cesk Otolaryngol. 1972 Oct;21(5):221-8.

X-linked ocular albinism.X连锁性眼白化病

Birth Defects Orig Artic Ser. 1971 Mar;7(3):200-2.

Albinism.白化病。

Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802.

Ocular albinism in a female.

Am J Ophthalmol. 1972 Jun;73(6):943-8. doi: 10.1016/0002-9394(72)90464-3.

Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness.诺里病——一种与X染色体相关的综合征，表现为视网膜畸形、智力迟钝和耳聋。

N Engl J Med. 1971 Feb 18;284(7):367-8. doi: 10.1056/NEJM197102182840707.

Symposium on sensorineural hearing loss in children: early detection and intervention. Genetic factors in deafness of early life.儿童感音神经性听力损失研讨会：早期检测与干预。早期生命期耳聋的遗传因素。

Otolaryngol Clin North Am. 1975 Feb;8(1):19-48.

An appraisal of genetics in clinical otology.临床耳科学中的遗传学评估。

Ann Otol Rhinol Laryngol. 1971 Apr;80(2):264-8. doi: 10.1177/000348947108000215.

引用本文的文献

Recent advances in ophthalmic genetics. Genetic counselling.眼科遗传学的最新进展。遗传咨询。

Br J Ophthalmol. 1974 Apr;58(4):427-37. doi: 10.1136/bjo.58.4.427.

Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.X连锁白化病-耳聋综合征（ADFN）的基因定位至Xq26.3-q27.1。

Am J Hum Genet. 1990 Jul;47(1):20-7.

X-linked recessive inheritance of sensorineural hearing loss expressed during adolescence.青春期表现出的感音神经性听力损失的X连锁隐性遗传。

Am J Hum Genet. 1975 Sep;27(5):609-13.

本文引用的文献

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.一种新的综合征，其合并了眼睑、眉毛和鼻根的发育异常，虹膜和头部毛发的色素沉着缺陷以及先天性耳聋。

Am J Hum Genet. 1951 Sep;3(3):195-253.

A new hereditary syndrome--sex linked deafmutism associated with total albinism.一种新的遗传性综合征——与完全白化病相关的性连锁聋哑症。

Acta Genet Stat Med. 1962;12:12-9. doi: 10.1159/000151176.

Sex-linked hereditary deafness.性连锁遗传性耳聋

Am J Hum Genet. 1955 Jun;7(2):201-3.

Partial albinism and deaf-mutism due to a recessive sex-linked gene.

Arch Dermatol. 1962 Oct;86:530-9. doi: 10.1001/archderm.1962.01590100144027.

Congenital deafness due to a sex-linked recessive gene.由性连锁隐性基因引起的先天性耳聋。

Am J Hum Genet. 1958 Jun;10(2):196-200.

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。

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

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