特雷彻·柯林斯综合征 - Suppr

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超能文献

Treacher Collins syndrome.

作者信息

Dixon M J

机构信息

School of Biological Sciences, University of Manchester, UK.

出版信息

J Med Genet. 1995 Oct;32(10):806-8. doi: 10.1136/jmg.32.10.806.

DOI:10.1136/jmg.32.10.806

PMID:8558560

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051706/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01f1/1051706/6587ae3f9bb5/jmedgene00277-0048-a.jpg

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Treacher Collins syndrome.特雷彻·柯林斯综合征

J Med Genet. 1995 Oct;32(10):806-8. doi: 10.1136/jmg.32.10.806.

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Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis.兔遗传性大口畸形：一种下颌面骨发育不全的形式——特雷彻·柯林斯综合征的模型。

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本文引用的文献

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS.下颌面部骨发育不全，五代家族研究

J Pediatr. 1964 Aug;65:215-21. doi: 10.1016/s0022-3476(64)80522-9.

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.将特雷彻·柯林斯综合征基因座的位置缩小至5q32 - 33.1处三个新微卫星标记之间的一个小间隔区域。

Am J Hum Genet. 1993 May;52(5):907-14.

Mild mandibulofacial dysostosis in a child with a deletion of 3p.一名患有3p缺失的儿童的轻度下颌面骨发育不全。

Am J Med Genet. 1993 Jun 15;46(5):534-6. doi: 10.1002/ajmg.1320460515.

A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.围绕5号染色体q臂上的特雷彻·柯林斯综合征基因座的联合遗传和辐射杂种图谱。

Hum Mol Genet. 1993 Nov;2(11):1785-92. doi: 10.1093/hmg/2.11.1785.

Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.与5号染色体q3区域的基因座相关的特雷彻·柯林斯综合征基因座的遗传和物理图谱。

Genomics. 1993 Oct;18(1):7-13. doi: 10.1006/geno.1993.1420.

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.特雷彻·柯林斯综合征：临床与基因连锁研究之间的相关性

Clin Dysmorphol. 1994 Apr;3(2):96-103.

Recurrence of Treacher Collins' syndrome with sonographic findings.

Mil Med. 1994 Mar;159(3):250-2.

A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.一个包含5q31.3 - 32区域特雷彻·柯林斯综合征关键区域的酵母人工染色体连续克隆系。

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Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.特雷彻·柯林斯-弗朗西谢蒂综合征的表观遗传同质性。

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