Literature DB >> 9001820

Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome.

M R Rivera-Vega, N Leyva Juárez, S A Cuevas-Covarrubias, S H Kofman-Alfaro.   

Abstract

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Year:  1996        PMID： 9001820     DOI： 10.1111/j.1399-0004.1996.tb02647.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  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

Review 2.  KBG syndrome.

Authors:  Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2006-12-12       Impact factor: 4.123

3.  Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Authors:  Milena Crippa; Daniela Rusconi; Chiara Castronovo; Ilaria Bestetti; Silvia Russo; Anna Cereda; Angelo Selicorni; Lidia Larizza; Palma Finelli
Journal:  Mol Cytogenet       Date:  2015-03-26       Impact factor: 2.009
  3 in total

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