article_metadata: Ibrahim Taha Selena Foroni Roberto Valli Annalisa Frattini Pamela Roccia Giovanni Porta Marco Zecca Elena Bergami Marco Cipolli Francesco Pasquali Cesare Danesino Claudia Scotti Antonella Minelli
article_metadata: 10.3389/fgene.2022.896749
article_metadata: Front Genet
article_metadata: 2022 Aug 12;13:896749.
article_metadata: eif6 sbds shwachman–diamond syndrome case report whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36035165/
article_metadata: Case Reports
article_metadata: PMC9411639
article_metadata: 36035165
article_metadata: Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome
article_metadata: 2022