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1. Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman–Bodian–Diamond syndrome.

Author

Rother, Conn, Gebauer, Niklas, Schneider, Juliane, Bauer, Arthur, Holzhausen, Fabian, Mayer, Thomas, Riecke, Armin, Müller, Matthias, Merz, Hartmut, Steinestel, Konrad, and Witte, Hanno M.

Subjects
*GENETIC variation, *NEUTROPENIA, *SINGLE nucleotide polymorphisms, *SYNDROMES, *WHOLE genome sequencing, *FEBRILE neutropenia
Abstract

Shwachman-Bodian-Diamond syndrome (SBDS) is an autosomal-recessive bone-marrow-failure-syndrome (BMFS). Further reported cases of heterozygotic missense mutations in exon 1 of the I SBDS i gene were associated with a clinical SBDS phenotype [[14]]. Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman-Bodian-Diamond syndrome Mutations Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia-do we have to screen?. [Extracted from the article]

Published
2021
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