期刊
FETAL DIAGNOSIS AND THERAPY
卷 29, 期 1, 页码 25-39出版社
KARGER
DOI: 10.1159/000322422
关键词
Congenital diaphragmatic hernia; Genetics; Retinoic acid; Retinoid signalling; Mesenchymal cell function; Lung; Diaphragm
资金
- European Commission [LSHC-CT-2006-037409]
- Marie Curie Fellowship [MEST CT2005 019707]
- Faculty of Medicine, Chiang Mai University, Thailand
- Fonds voor Wetenschappelijk Onderzoek Vlaanderen (FWO) [1.8.012.07.N.02, GOA/2006/12]
- Instituut voor Wetenschap en Technologie [IWT/070715]
- GOA (K.U. Leuven) [2006/12]
- IWT [SBO-60848]
- Center of Excellence SymBioSys [KUL PFV/10/016 SymBioSys]
Congenital diaphragmatic hernia (CDH) is a birth defect affecting around 1 in 3,000 births and is associated with high mortality and morbidity. It has become increasingly apparent that genetic factors underlie many forms of CDH. We review the recent developments in the area of the genetics of CDH, including potential candidate genes supported by evidence from animal models. We also discuss the possible role in the pathogenesis of CDH of defective retinoid signalling and abnormal mesenchymal cell function. Copyright (C) 2010 S. Karger AG, Basel
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