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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges in detection. We evaluated 10 362 patients with a c...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350600/ https://www.ncbi.nlm.nih.gov/pubmed/24398791 http://dx.doi.org/10.1038/ejhg.2013.285 |