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Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices
Abstract
Heterozygous (carrier) status for an autosomal recessive condition is traditionally considered to lack significance for an individual's health, but this assumption has been challenged by a growing body of evidence. Carriers of several autosomal recessive disorders and some X-linked diseases are potentially at risk for the pathology manifest in homozygotes. This minireview provides an overview of the literature regarding health risks to carriers...
Paper Details
Title
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices
Published Date
Aug 21, 2021
Volume
134
Issue
1-2
Pages
8 - 19