Open AccessGenetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
Author(s) -
Monica H. Wojcik,
Talia S. Schwartz,
Inbar Yamin,
Heather L. Edward,
Casie A. Genetti,
Meghan C. Towne,
Pankaj B. Agrawal
Publication year - 2018
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2018.17
Subject(s) - medicine , medical diagnosis , pediatrics , genetic diagnosis , intensive care medicine , psychiatry , pathology , genetics , biology , gene
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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