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Article

Mosaic mutations in early-onset genetic diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2016

Halvorsen Matt, Petrovski Slavé, Shellhaas Renée, Tang Yingying, Crandall Laura, Goldstein David, Devinsky Orrin

Abstract excerpt

PURPOSE: An emerging approach in medical genetics is to identify de novo mutations in patients with severe early-onset genetic disease that are absent in population controls and in the patient's parents. This approach, however, frequently misses post-zygotic "mosaic" mutations that are present in only a portion of the healthy parents' cells and are transmitted to offspring. METHODS: We constructed a mosaic...

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PMID: 26716362
DOI: 10.1038/gim.2015.155
PMCID: PMC4929028

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