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Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

6 Sept 2017

Abstract excerpt

This review focuses on the classification, diagnosis and natural history of congenital neutropenia (CN). CN encompasses a number of genetic disorders with chronic neutropenia and, for some, affecting other organ systems, such as the pancreas, central nervous system, heart, bone and skin. To date, 24 distinct genes have been associated with CN. The number of genes involved makes gene screening difficult. This can...

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PMID: 28875503
DOI: 10.1111/bjh.14887

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