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Article

A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.

The Journal of molecular diagnostics : JMD - 1 Feb 2021

McNulty Samantha N, Evenson Michael J, Riley Meaghan, Yoest Jennifer M, Corliss Meagan M, Heusel Jonathan W, Duncavage Eric J, Pfeifer John D

Abstract excerpt

Severe congenital neutropenia (SCN) is a collection of diverse disorders characterized by chronically low absolute neutrophil count in the peripheral blood, increased susceptibility to infection, and a significant predisposition to the development of myeloid malignancies. SCN can be acquired or inherited. Inherited forms have been linked to variants in a group of diverse genes involved in the...

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PMID: 33217554
DOI: 10.1016/j.jmoldx.2020.10.014

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