Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although frequently associated with trisomy 21, autosomal dominant AVSD has also been described. Recently we identified and characterized the cell adhesion molecule CRELD1 (previously know...

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Hauptverfasser: Robinson, Susan W., Morris, Cynthia D., Goldmuntz, Elizabeth, Reller, Mark D., Jones, Melanie A., Steiner, Robert D., Maslen, Cheryl L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2003
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180336/
https://ncbi.nlm.nih.gov/pubmed/12632326
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