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Birth defects, the leading cause of infant mortality in the United States, are responsible for nearly 20 percent of all infant deaths. In the 20th century, there was remarkable progress in cataloguing the chromosomal abnormalities, human teratogens, and single-gene defects that cause birth defects. Yet even today, the causes of two thirds of all birth defects remain unknown. The revolution in the biochemistry of genetics opened a window on the ways in which metabolic errors can lead to diverse clinical syndromes such as the mental retardation caused by phenylketonuria. That breakthrough led to the recognition that, when it is begun
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