Article
Identification of genes for childhood heritable diseases.
Annual review of medicine - 1 Jan 2014
Boycott Kym M, Dyment David A, Sawyer Sarah L, Vanstone Megan R, Beaulieu Chandree L
Abstract excerpt
Genes causing rare heritable childhood diseases are being discovered at an accelerating pace driven by the decreasing cost and increasing accessibility of next-generation DNA sequencing combined with the maturation of strategies for successful gene identification. The findings are shedding light on the biological mechanisms of childhood disease and broadening the phenotypic spectrum of many clinical syndromes....
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