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
Published in Frontiers in genetics (12.08.2022)
Published in Frontiers in genetics (12.08.2022)
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Journal Article
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect
Foroni, Selena, Taha, Ibrahim, Bezzerri, Valentino, Pintani, Emily, Cipolli, Marco, Danesino, Cesare, Mazza, Tommaso, Minelli, Antonella
Published in Gene reports (01.06.2023)
Published in Gene reports (01.06.2023)
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Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
Taha, Ibrahim, De Paoli, Federica, Foroni, Selena, Zucca, Susanna, Limongelli, Ivan, Cipolli, Marco, Danesino, Cesare, Ramenghi, Ugo, Minelli, Antonella
Published in Genes (23.07.2022)
Published in Genes (23.07.2022)
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