Case Report: Heterozygous Germline Variant in <i>EIF6</i> Additional to Biallelic <i>SBDS</i> 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

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.

Afiliação

Taha I; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Foroni S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Valli R; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Frattini A; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Roccia P; Istituto di Ricerca Genetica e Biomedica, CNR, Milano, Italy.
Porta G; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Zecca M; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Bergami E; Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico S, Matteo, Pavia, Italy.
Cipolli M; Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico S, Matteo, Pavia, Italy.
Pasquali F; Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.
Danesino C; Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Scotti C; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Minelli A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.