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
10.3389/fgene.2022.896749
Front Genet
2022 Aug 12;13:896749.
eif6 sbds shwachman–diamond syndrome case report whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36035165/
Case Reports
PMC9411639
36035165
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome
2022