[不同类型的角膜硬化症、其遗传方式及相关先天性畸形] - Suppr

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超能文献

[The different types of sclerocornea, their hereditary modes and concomitant congenital malformations].

作者信息

Bloch N

出版信息

J Genet Hum. 1965 Sep;14(2):133-72.

PMID:4954614

Abstract

摘要

相似文献

[The different types of sclerocornea, their hereditary modes and concomitant congenital malformations].[不同类型的角膜硬化症、其遗传方式及相关先天性畸形]

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Am J Med Genet. 1998 Feb 17;75(5):497-504.

Hereditary sclerocornea.遗传性角膜硬化症

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Z Morphol Anthropol. 1966 May;57(2):111-67.

Sclerocornea (in 3 siblings).巩膜化角膜（见于3名兄弟姐妹）

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[Alport's syndrome and associated congenital malformations of the kidney and ear].[阿尔波特综合征及相关的肾和耳先天性畸形]

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[Malformative and degenerative auricular genopathies].[耳部发育不良性和退行性基因病]

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引用本文的文献

A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree.从一个外周硬化角膜家系中鉴定出的黏连蛋白亚基变体。

Dis Markers. 2019 Nov 12;2019:8781524. doi: 10.1155/2019/8781524. eCollection 2019.

An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.对墨西哥某村庄中导致巩膜硬化、无晶状体和小眼畸形高发病率的叉头框蛋白E3奠基者突变进行的流行病学调查。

Mol Vis. 2013 Aug 27;19:1866-70. eCollection 2013.

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.与22q11.2染色体缺失综合征相关的巩膜角膜

Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156.

Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy.先天性角膜混浊的超声生物显微镜检查的临床病理相关性

Br J Ophthalmol. 2002 Jan;86(1):62-9. doi: 10.1136/bjo.86.1.62.

The genetics of cornea plana congenita.先天性扁平角膜的遗传学

J Med Genet. 1996 Feb;33(2):116-9. doi: 10.1136/jmg.33.2.116.

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