显性先天性耳聋和进行性视神经萎缩。在一个家族的四代人中出现。 - Suppr

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超能文献

Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family.

作者信息

Konigsmark B W, Knox D L, Hussels I E, Moses H

出版信息

Arch Ophthalmol. 1974 Feb;91(2):99-103. doi: 10.1001/archopht.1974.03900060105003.

DOI:10.1001/archopht.1974.03900060105003

PMID:4544000

Abstract

摘要

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引用本文的文献

Autosomal dominant optic atrophy with gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.日本队列中伴有基因突变的常染色体显性遗传性视神经萎缩，伴有听觉神经病和其他全身并发症。

Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019.

[Hereditary optic atrophies].[遗传性视神经萎缩]

Ophthalmologe. 2009 Sep;106(9):845-57. doi: 10.1007/s00347-009-2023-0.

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.由WFS1基因错义突变引起的常染色体显性遗传性视神经萎缩伴听力障碍和葡萄糖调节受损。

J Med Genet. 2006 May;43(5):435-40. doi: 10.1136/jmg.2005.034892.

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.显性遗传性视神经萎缩的临床特征、分子遗传学及病理生理学

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[Eye changes in the merle syndrome in the dog (author's transl)].

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