The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here w...

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Detalles Bibliográficos
Autores principales: Sailani, M. Reza, Makrythanasis, Periklis, Valsesia, Armand, Santoni, Federico A., Deutsch, Samuel, Popadin, Konstantin, Borel, Christelle, Migliavacca, Eugenia, Sharp, Andrew J., Duriaux Sail, Genevieve, Falconnet, Emilie, Rabionet, Kelly, Serra-Juhé, Clara, Vicari, Stefano, Laux, Daniela, Grattau, Yann, Dembour, Guy, Megarbane, Andre, Touraine, Renaud, Stora, Samantha, Kitsiou, Sofia, Fryssira, Helena, Chatzisevastou-Loukidou, Chariklia, Kanavakis, Emmanouel, Merla, Giuseppe, Bonnet, Damien, Pérez-Jurado, Luis A., Estivill, Xavier, Delabar, Jean M., Antonarakis, Stylianos E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759718/
https://www.ncbi.nlm.nih.gov/pubmed/23783273
http://dx.doi.org/10.1101/gr.147991.112

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