| The genetics of congenital diaphragmatic hernia. | |
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MedLine Citation:
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PMID: 16050525 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. A clear understanding of the pathogenesis of CDH is critical for determining prognosis and planning treatment, but to date, information on the genetic etiology of both nonsyndromic and syndromic CDH is limited. This paper summarizes the current knowledge concerning the genes, syndromes, and chromosome aberrations associated with CDH in humans and in animal model systems. Mutations in several different genes have been described in syndromic CDH, but there is only one mutation that has been reported in non-syndromic CDH to date. However, animal models suggest that genes involved in cell migration, myogenesis, and connective tissue formation are critical to normal diaphragm formation, and these data provide a starting point for the search for other genes involved in the pathogenesis of CDH. |
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Authors:
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Anne M Slavotinek |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Seminars in perinatology Volume: 29 ISSN: 0146-0005 ISO Abbreviation: Semin. Perinatol. Publication Date: 2005 Apr |
Date Detail:
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Created Date: 2005-07-29 Completed Date: 2005-10-20 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7801132 Medline TA: Semin Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 77-85 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of California, San Francisco, CA 94143-0748, USA. slavotia@peds.ucsf.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Animals Disease Models, Animal Female Genetic Predisposition to Disease* Hernia, Diaphragmatic / congenital, genetics*, physiopathology Humans Mutation Pregnancy Syndrome |
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