Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

BACKGROUND: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. METHODS: We analyzed the genomes of 2312 children known to carry a co...

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Detaylı Bibliyografya
Asıl Yazarlar: Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.
Materyal Türü: Metin
Dil:İngilizce
Baskı/Yayın Bilgisi: 2012
Konular:
Article
Online Erişim:https://pmc.ncbi.nlm.nih.gov/articles/PMC3494411/
https://pubmed.ncbi.nlm.nih.gov/22970919
http://dx.doi.org/10.1056/NEJMoa1200395
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC3494411/
https://pubmed.ncbi.nlm.nih.gov/22970919
http://dx.doi.org/10.1056/NEJMoa1200395

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