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Article

Emerging genetic technologies informing personalized medicine in Shwachman-Diamond syndrome and other inherited BMF disorders.

Blood - 29 Aug 2024

Cull Alyssa H, Kent David G, Warren Alan J

Abstract excerpt

ABSTRACT: Ribosomopathy Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive inherited bone marrow failure syndrome (IBMFS) caused by mutations in the Shwachman-Bodian-Diamond syndrome gene, which is associated with an increased risk of myeloid malignancy. Tracking how hematopoietic stem cell (HSC) clonal dynamics change over time, assessing whether somatic genetic rescue mechanisms affect these...

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Identifiers

PMID: 38905596
DOI: 10.1182/blood.2023019986

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