Article
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Pediatric research - 1 Dec 2022
Thompson Ashley S, Giri Neelam, Gianferante D Matthew, Jones Kristine, Savage Sharon A, Alter Blanche P, McReynolds Lisa J
Abstract excerpt
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. Biallelic pathogenic variants (PV) in SBDS account for >90% of SDS. We hypothesized that the SDS phenotype varies based on genotype and conducted a genotype-phenotype correlation study to better understand these...
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