Shwachman Diamond Syndrome: Narrow Genotypic Spectrum and Variable Clinical Features

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 phenotyp...

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Detalles Bibliográficos
Autores principales: Thompson, Ashley S., Giri, Neelam, Gianferante, D. Matthew, Jones, Kristine, Savage, Sharon A., Alter, Blanche P., McReynolds, Lisa J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500118/
https://www.ncbi.nlm.nih.gov/pubmed/35322185
http://dx.doi.org/10.1038/s41390-022-02009-8

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