author = { Taha, Ibrahim AND De Paoli, Federica AND Foroni, Selena AND Zucca, Susanna AND Limongelli, Ivan AND Cipolli, Marco AND Danesino, Cesare AND Ramenghi, Ugo AND Minelli, Antonella },

title = { 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 },

publisher = {MDPI AG},

isbn = {2073-4425},

keywords = { Genetics (clinical) , Genetics },

year = {2022},

url = { http://slubdd.de/katalog?TN_libero_mab2 }