Literature DB >> 16104249

[Elfin facies, mental retardation and cardiovascular anomalies (Williams and Beuren's syndrome). Report of two cases].

J L Fontaine, P Vernant, D Graveleau, B Lagardère, J F Elchardus.   

Abstract

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Year:  1976        PMID: 16104249

Source DB:  PubMed          Journal:  Ann Pediatr (Paris)        ISSN: 0066-2097


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  2 in total

1.  MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Authors:  Seema R Lalani; Stephanie M Ware; Xueqing Wang; Gladys Zapata; Qi Tian; Luis M Franco; Zhengxin Jiang; Kristine Bucasas; Daryl A Scott; Philippe M Campeau; Neil Hanchard; Luis Umaña; Ashley Cast; Ankita Patel; Sau W Cheung; Kim L McBride; Molly Bray; A Craig Chinault; Barbara A Boggs; Miao Huang; Mariah R Baker; Susan Hamilton; Jeff Towbin; John L Jefferies; Susan D Fernbach; Lorraine Potocki; John W Belmont
Journal:  Hum Mol Genet       Date:  2013-06-16       Impact factor: 6.150

2.  Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Authors:  Seema R Lalani; Chad Shaw; Xueqing Wang; Ankita Patel; Lance W Patterson; Katarzyna Kolodziejska; Przemyslaw Szafranski; Zhishuo Ou; Qi Tian; Sung-Hae L Kang; Amina Jinnah; Sophia Ali; Aamir Malik; Patricia Hixson; Lorraine Potocki; James R Lupski; Pawel Stankiewicz; Carlos A Bacino; Brian Dawson; Arthur L Beaudet; Fatima M Boricha; Runako Whittaker; Chumei Li; Stephanie M Ware; Sau Wai Cheung; Daniel J Penny; John Lynn Jefferies; John W Belmont
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246

  2 in total

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