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Article

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

16 Apr 2017

Abstract excerpt

Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow...

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PMID: 28414293
DOI: 10.1172/jci90727

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