Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investi...

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Bibliografski detalji
Izdano u:Am J Hum Genet
Glavni autori: de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, Annette F., Renkens, Ivo, Duran, Karen J., van Binsbergen, Ellen, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2015
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385185/
https://ncbi.nlm.nih.gov/pubmed/25799107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.005
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