Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

Severe neutropenia is defined as an absolute neutrophil count (ANC) of less than 0.5 × 10 (9) /L. Severe congenital neutropenia (SCN) is an inborn disorder with maturation arrest of granulocytes due to various genetic abnormalities, which may lead to immunodeficiency. Among several associated geneti...

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Bibliographic Details
Published in:J Pediatr Genet
Main Authors: Jia, Yue, Yue, Changjun, Bradford, Kathryn, Qing, Xin, Panosyan, Eduard H., Gotesman, Moran
Format: Artigo
Language:Inglês
Published: Georg Thieme Verlag KG 2020
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7375850/
https://ncbi.nlm.nih.gov/pubmed/32714623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3399523
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