一种犹太类型的科恩综合征真的存在吗？ - Suppr

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Does a Jewish type of Cohen syndrome truly exist?

作者信息

Chandler K E, Clayton-Smith Jill

出版信息

Am J Med Genet. 2002 Sep 1;111(4):453-4. doi: 10.1002/ajmg.10611.

DOI:10.1002/ajmg.10611

PMID:12210312

Abstract

摘要

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Does a Jewish type of Cohen syndrome truly exist?

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引用本文的文献

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2.

The Finnish Disease Heritage III: the individual diseases.

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相似文献

Does a Jewish type of Cohen syndrome truly exist?

Am J Med Genet. 2002 Sep 1;111(4):453-4. doi: 10.1002/ajmg.10611.

Cardiac involvement in the Cohen syndrome: a case report.

Clin Genet. 1980 May;17(5):317-9. doi: 10.1111/j.1399-0004.1980.tb00156.x.

Martsolf's syndrome in a non-Jewish boy.

J Med Genet. 1988 Apr;25(4):267-9. doi: 10.1136/jmg.25.4.267.

Two brothers with Martsolf's syndrome.

J Med Genet. 1985 Aug;22(4):308-10. doi: 10.1136/jmg.22.4.308.

The radiology of Coffin-Lowry syndrome.

Br J Radiol. 1990 Jan;63(745):72-5. doi: 10.1259/0007-1285-63-745-72.

Cohen syndrome with bull's eye macular lesion.

Ophthalmic Paediatr Genet. 1986 Mar;7(1):1-8. doi: 10.3109/13816818609058036.

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

Am J Med Genet. 1990 Sep;37(1):109-13. doi: 10.1002/ajmg.1320370126.

Cohen syndrome: fertility in a female patient.

Clin Genet. 1991 Dec;40(6):461-4. doi: 10.1111/j.1399-0004.1991.tb03118.x.

A further patient with van Maldergem syndrome.

Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13.

Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.

Acta Neurol Belg. 2015 Dec;115(4):779-82. doi: 10.1007/s13760-014-0413-9. Epub 2014 Dec 28.

引用本文的文献

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Am J Hum Genet. 2004 Jul;75(1):122-7. doi: 10.1086/422197. Epub 2004 May 12.

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2.

The Finnish Disease Heritage III: the individual diseases.

Hum Genet. 2003 May;112(5-6):470-526. doi: 10.1007/s00439-002-0877-1. Epub 2003 Mar 8.