Literature DB >> 16175191

Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.

Philip D Cotter, Hieu Nguyen, Gloria Tung, Katherine A Rauen.   

Abstract

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Year:  2005        PMID： 16175191     DOI： 10.1038/sj.ejhg.5201494

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  2 in total

1.  Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Authors:  Deling Li; Mustafa Tekin; Maria Buch; Yao-Shan Fan
Journal:  Mol Cytogenet       Date:  2012-04-09       Impact factor: 2.009

2.  22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.

Authors:  Linda T Nguyen; Rachel Fleishman; Emilee Flynn; Rajeev Prasad; Achintya Moulick; Cesar Igor Mesia; Sue Moyer; Reena Jethva
Journal:  Clin Case Rep       Date:  2017-02-11
  2 in total

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