Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of de...

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Publicado en:Birth Defects Res
Main Authors: Matsunami, Nori, Shanmugam, Hari, Baird, Lisa, Stevens, Jeff, Byrne, Janice L., Barnhart, Douglas C., Rau, Carrie, Feldkamp, Marcia L., Yoder, Bradley A., Leppert, Mark F., Yost, H. Joseph, Brunelli, Luca
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5903934/
https://ncbi.nlm.nih.gov/pubmed/29570242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdr2.1223
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