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Weaver syndrome and defective cortical development: a rare association.

作者信息

Al-Salem Ahmed, Alshammari Muneera J, Hassan Hamdy, Alazami Anas M, Alkuraya Fowzan S

机构信息

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Am J Med Genet A. 2013 Jan;161A(1):225-7. doi: 10.1002/ajmg.a.35660. Epub 2012 Dec 13.

DOI:10.1002/ajmg.a.35660

PMID:23239504

Abstract

摘要

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相似文献

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J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26. Epub 2015 Mar 19.

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

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Hum Mutat. 2017 Jun;38(6):637-648. doi: 10.1002/humu.23200. Epub 2017 Mar 15.

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Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12.

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引用本文的文献

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