Article
Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2017
Pique Lynn, Graham Steve, Pearl Michelle, Kharrazi Martin, Schrijver Iris
Abstract excerpt
PURPOSE: Cystic fibrosis newborn screening (CFNBS) has been offered across the United States since 2010. However, as compared with white patients with CF, CFTR variant identification in nonwhite populations remains inequitable. Utilizing the recent characterization of the nonwhite CF variant spectrum, we examined the effectiveness of current CFNBS molecular panels in identifying affected nonwhite newborns....
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