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Germ-line PIGA mutations are generally thought to be lethal in utero; however, there are reports of infants with PIGA mutations associated with dysmorphic features, neurologic manifestations, biochemical perturbations, and systemic iron overload; development can be normal up to 6 months of age. Because of the differences between infants with NH versus PIGA germ-line mutations in inheritance, prognosis, and natural history of disease, we propose that PIGA gene testing should be considered when evaluating newborns who present with NH. The
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