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...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Pham, Justin, Shaw, Chad, Pursley, Amber, Hixson, Patricia, Sampath, Srirangan, Roney, Erin, Gambin, Tomasz, Kang, Sung-Hae L, Bi, Weimin, Lalani, Seema, Bacino, Carlos, Lupski, James R, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau-Wai
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4350600/
https://ncbi.nlm.nih.gov/pubmed/24398791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.285
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