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Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongen...
Autores principales: | Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498850/ https://www.ncbi.nlm.nih.gov/pubmed/26185636 http://dx.doi.org/10.1002/ccr3.241 |
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