Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.,Genetics in Medicine

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Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.17
Monica H Wojcik _{1,

2,

3} , Talia S Schwartz _{2,

3} , Inbar Yamin _{2,

3} , Heather L Edward _{2,

3} , Casie A Genetti _{2,

3} , Meghan C Towne _{2,

3,

4} , Pankaj B Agrawal _{1,

2,

3}

Affiliation

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.

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