Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
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ABSTRACT:
SUBMITTER: Wojcik MH
PROVIDER: S-EPMC6185816 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Wojcik Monica H MH Schwartz Talia S TS Yamin Inbar I Edward Heather L HL Genetti Casie A CA Towne Meghan C MC Agrawal Pankaj B PB
Genetics in medicine : official journal of the American College of Medical Genetics 20180412 11
<h4>Purpose</h4>Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation.<h4>Methods</h4>This is a retrospective analysis of infants admitted to our NICU between 1 January 2011 and 31 December 2015 who were deceased at the time of records review, with age at death less than 5 years.<h4>Results</h4>A total of 2,670 infants ...[more]
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