Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a criti...

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Auteurs principaux: Wat, Margaret J., Shchelochkov, Oleg A., Holder, Ashley M., Breman, Amy M., Dagli, Aditi, Bacino, Carlos, Scaglia, Fernando, Zori, Roberto T., Cheung, Sau Wai, Scott, Daryl A., Kang, Sung-Hae Lee
Format: Artigo
Langue:Inglês
Publié: 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765374/
https://ncbi.nlm.nih.gov/pubmed/19606479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32896
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