Articles with "xq13 duplication" as a keyword



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T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

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Published in 2017 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2017.00156

Abstract: Newborn screening for severe combined immunodeficiency has proven successful in identifying infants with T-cell deficiencies before they become severely ill. Additionally, the newborn screen can detect subtle early phenotypes that may become severe later in… read more here.

Keywords: xq13 duplication; lymphopenia detected; cell; newborn screening ... See more keywords