Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

BACKGROUND—: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906...

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Autores principales: Guo, Tingwei, Repetto, Gabriela M., McDonald McGinn, Donna M., Chung, Jonathan H., Nomaru, Hiroko, Campbell, Christopher L., Blonska, Anna, Bassett, Anne S., Chow, Eva W.C., Mlynarski, Elisabeth E., Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E., Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E., Digilio, M. Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E., Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E., Tassone, Flora, Simon, Tony J., van Duin, Esther D.A., van Amelsvoort, Thérèse A., Kates, Wendy R., Zackai, Elaine, Johnston, H. Richard, Cutler, David J., Agopian, A.J., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Emanuel, Beverly S., Morrow, Bernice E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121/
https://www.ncbi.nlm.nih.gov/pubmed/29025761
http://dx.doi.org/10.1161/CIRCGENETICS.116.001690

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