Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
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Baurand A, et al. Among authors: bonnet c.
Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21.
Am J Med Genet A. 2017.
PMID: 27868338
Review.