Literature DB >> 19923022

Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare.

Lihong Jiang1, Zongliu Hou2, Changqing Duan3, Baowen Chen3, Zhiyi Chen4, Yaxiong Li4, Youming Huan5, Kenneth K Wu6.   

Abstract

It is well known that a deletion within chromosome 22q11.2 has been identified in most cases of congenital heart disease (CHD) with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). Whether the 22q11.2 deletion is associated with isolated CHD is controversial. Our data is consistent with previous publications which show that the 22q11.2 deletion is associated with isolated CHD even though it is rare.
Copyright © 2009 Elsevier Ireland Ltd. All rights reserved.

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Year:  2009        PMID: 19923022     DOI: 10.1016/j.ijcard.2009.10.013

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


  2 in total

Review 1.  Transcription factor pathways and congenital heart disease.

Authors:  David J McCulley; Brian L Black
Journal:  Curr Top Dev Biol       Date:  2012       Impact factor: 4.897

2.  DiGeorge Syndrome: a not so rare disease.

Authors:  Angela B F Fomin; Antonio Carlos Pastorino; Chong Ae Kim; C A Pereira; Magda Carneiro-Sampaio; Cristina Miuki Abe-Jacob
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

  2 in total

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