WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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English Journal
- Lens induction requires attenuation of ERK signaling by Nf1.
- Carbe C, Zhang X.SourceDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
- Human molecular genetics.Hum Mol Genet.2011 Apr 1;20(7):1315-23. Epub 2011 Jan 13.
- Aphakia (lack of lens) is a rare human congenital disorder with its genetic etiology largely unknown. Even in model organisms, very few mutations are known to result in such a drastic ocular defect. In this study, we have shown that homozygous deletion of Nf1, the Ras GTPase gene underlying human ne
- PMID 21233129
- Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
- Cotter PD, Nguyen H, Tung G, Rauen KA.
- European journal of human genetics : EJHG.Eur J Hum Genet.2005 Dec;13(12):1245-6.
- PMID 16175191
Japanese Journal
- 啼泣時や会話時に顔面非対称を呈し歯科を受診した4例
Related Links
- What is Velo-cardio-facial syndrome (VCFS)? Velo-cardio-facial syndrome ( VCFS) is a genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome. Velo-cardio-facial ...
- 4 Nov 2008 ... Details about this organization as well as an fact sheet about the disease. Includes details about support groups, a mission statement and contact information.
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★リンクテーブル★
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口蓋心臓顔面症候群
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