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

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

doi:10.3389/fgene.2022.896749

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

Ibrahim Taha, et al.

ByIbrahim Taha

Aug 13, 2022 Additional, alh5, Biallelic, brh5Ibrahim, Case, eIF6, germline, Heterozygous, pathogenic, patient, report, Ribosomopathy, SBDS, Shwachmandiamond, Syndrome, Taha, Variant, variants

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

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