Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Background: Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90% of SDS patients have pathogenic variants in SBDS, t...

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Detalles Bibliográficos
Autores principales: Taha, Ibrahim, Foroni, Selena, Valli, Roberto, Frattini, Annalisa, Roccia, Pamela, Porta, Giovanni, Zecca, Marco, Bergami, Elena, Cipolli, Marco, Pasquali, Francesco, Danesino, Cesare, Scotti, Claudia, Minelli, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411639/
https://www.ncbi.nlm.nih.gov/pubmed/36035165
http://dx.doi.org/10.3389/fgene.2022.896749

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